/ en Fri, 31 Oct 25 08:00:32 -0400 /news/genetic-variant-increases-risk-heart-muscle-disease-common-individuals-african-ancestry <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Fri, 31 Oct 2025 12:00:32 +0000 tulrich@broadinstitute.org 5559506 at /news/mass-general-brigham-launches-genetic-test-predict-risk-across-eight-cardiovascular-conditions <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Wed, 03 Sep 2025 21:35:14 +0000 Corie Lok 5559326 at /news/study-reveals-links-between-blood-vessel-biology-and-heart-disease-risk <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Wed, 07 Feb 2024 16:50:22 +0000 tulrich@broadinstitute.org 5556406 at /news/more-diverse-datasets-lead-better-genetic-risk-prediction-heart-disease <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Thu, 06 Jul 2023 15:00:00 +0000 leah@broadinstitute.org 1282446 at /news/lipocyte-profiler-metabolic-biology-tool <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Fri, 30 Jun 2023 14:30:09 +0000 makenziekohler 1282386 at /news/broad-discovery-center-cambridge-opens-public-october <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Mon, 19 Sep 2022 14:53:09 +0000 kzusi@broadinstitute.org 1195701 at /news/single-cell-map-heart-failure-suggests-possible-therapeutic-targets <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Wed, 22 Jun 2022 18:03:24 +0000 adicorat 1136501 at /news/single-cell-map-heart-reveals-wide-cellular-diversity <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Thu, 04 Jun 2020 15:04:05 +0000 Corie Lok 630396 at /news/curbing-inflammation-could-reduce-heart-disease-risk-linked-blood-disorder <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Wed, 13 Nov 2019 03:23:42 +0000 leah@broadinstitute.org 625076 at /news/calculating-genetic-risk-obesity <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" class="datetime">October 31, 2025</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Genetic variant increases risk of heart muscle disease common in individuals of African ancestry</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A single mutation in the <em>CD36</em> gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Mass General Brigham Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2025-10-31T08:00:32-04:00" title="Friday, October 31, 2025 - 08:00" class="datetime">October 31, 2025</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue."> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=VxCZXx0o 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=dl80Ds9Y 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=O8GzltsM 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=nMH78pJh 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"/> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/longstory/heart_muscle_cells_cardiomyocytes3-anant-chopra_mo-BROAD00269048_crop.png?itok=iF28FQUf" alt="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." title="A microscope image of heart muscle cells, with contraction-related proteins stained red and cell nuclei stained blue." typeof="foaf:Image" /> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Anant Chopra, Ó³»­´«Ã½/Bayer Precision Cardiology Lab </div> <div class="media-caption__description"> Heart muscle cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous" /></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/614/feed&title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/614/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&body=/taxonomy/term/614/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> <div class="block block-layout-builder block-field-blocknodelong-storyfield-content-paragraphs"> <div class="field field--name-field-content-paragraphs field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--text-with-sidebar text-with-sidebar"> <div class="field field--name-field-sidebar field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related people</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/bios/patrick-t-ellinor">Patrick Ellinor</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-menu sidebar-menu"> <div class="sidebar-menu__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related programs</p> </div> <div class="field field--name-field-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/cardiovascular-disease">Cardiovascular Disease Initiative</a></div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture role="img" aria-label="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure."> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=qv2egi5l 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=mUtK5zYw 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=jePZzB7F 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv 1x" media="all and (max-width: 539px)" type="image/jpeg" width="220" height="186"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed"><img loading="eager" width="220" height="186" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Cardiac-MRI-main-image2.jpg?h=d3e04ee7&itok=4j0oBQBv" alt="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." title="MRI scan of the heart shows the left ventricle (green), which researchers studied to look for genetic markers for conditions that lead to heart failure." typeof="foaf:Image"></a> </picture> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-factors-heart-failure-and-arrhythmias-revealed" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic factors for heart failure and arrhythmias revealed</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Dilated cardiomyopathy (DCM), a leading cause of heart failure, is twice as common in Black individuals as in white individuals. This excess risk is not fully explained by known risk factors such as high blood pressure or socioeconomic barriers to care. Now, investigators from Mass General Brigham, the Ó³»­´«Ã½ of MIT and Harvard, and VA Boston have identified a common gene variant that substantially increases DCM risk — a discovery made possible through large, ancestrally diverse biobanks. The findings, published in <a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank"><em>Nature Genetics</em>,</a> indicate that in individuals of African descent, this single mutation may be as important to DCM risk as hypertension.</p> <p>"We’ve long known that individuals of self-identified Black race — and, presumably, African genetic ancestry — face a much higher risk of DCM, a disparity not explained fully by clinical or social factors. The drivers of this risk have remained elusive, but with the growth of large and diverse biobanks we’ve now uncovered a major genetic contributor," said senior and corresponding author Krishna Aragam, who conducted this work while serving as a cardiologist at Mass General Brigham and a scientist in the Ó³»­´«Ã½'s <a href="/cardiovascular-disease">Cardiovascular Disease Initiative (CVDi)</a>. Aragam now serves as the director of cardiovascular genomics at the Cleveland Clinic. </p> <p>The study used genetic information from over 95,000 participants of African genetic ancestry in the VA Million Veteran Program (MVP), including nearly 2,000 individuals with DCM. Through a genome-wide association study, designed to pinpoint slight differences between the DNA of those with and without DCM, the researchers determined that a one-letter change in the code of the <em>CD36</em> gene was associated with a 33 percent increase in risk of DCM. Individuals who inherited faulty copies of <em>CD36</em> from both parents had nearly three-fold increased odds of DCM. </p> <p><em>CD36</em> encodes a protein that imports fatty acids into heart muscle cells — a critical fuel source for cardiac contraction. The specific <em>CD36</em> gene variant linked to DCM was found in 17 percent of those with African ancestry, but less than 0.1 percent of those with European ancestry, a difference that the researchers speculate may be due to an association between the gene variant and malarial resistance.</p> <p>"This is exactly why MVP was established — to include veterans from diverse backgrounds so we could identify important genetic drivers of disease that would otherwise be missed," said J. Michael Gaziano, founding principal investigator of MVP and a co-author of the study. "It’s remarkable that a gene variant this common and impactful could remain undiscovered for so long, and gratifying to see MVP helping to close that gap."</p> <p>The researchers — including co-first authors Jennifer Huffman and Liam Gaziano of VA Boston and Zeina Al Sayed of Ó³»­´«Ã½, and co-senior authors Yan Sun of the Atlanta VA Medical Center and Jacob Joseph of VA Boston — validated the association between <em>CD36</em> and DCM in over 11,000 participants of African ancestry from the Penn Medicine Biobank. In three other cohorts with cardiac imaging data, the researchers found that carriers of the <em>CD36</em> variant demonstrated evidence of impaired heart functioning even before manifesting symptoms of heart failure. </p> <p>Overall, the researchers estimate that this single variant may account for approximately 20 percent of the excess risk of DCM observed in Black patients compared to white patients.</p> <p>Laboratory experiments reinforced the mechanistic pathway: When researchers reduced CD36 protein expression in cultured heart muscle cells using RNA interference, the cells took up less fuel and showed impaired contraction.</p> <p>"The CD36 story is fascinating because it connects a common genetic variant to fundamental questions of heart energetics," said <a href="/bios/patrick-t-ellinor">Patrick Ellinor</a>, co-senior author, executive director of the Mass General Brigham Heart and Vascular Institute, and director of the CVDi and an institute member at Ó³»­´«Ã½. "It’s a striking example of how genetics can uncover mechanisms driving heart disease."</p> <p>The researchers are now exploring how <em>CD36</em> compares to other genetic drivers of DCM, and whether targeting this pathway could help normalize cardiac energetics. </p> <p>"Given its widespread impact in populations of African ancestry, we believe <em>CD36</em> deserves to be part of clinical genetic testing for cardiomyopathy," said Aragam. "And its biology points directly to the way the heart fuels itself, making it an especially compelling target for new therapies." </p> <p><em>Adapted from <a href="https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/study-uncovers-genetic-basis-for-heart-muscle-disease" target="_blank">a press release</a> issued by Mass General Brigham.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Funding for this study came from the Department of Veterans Affairs, the National Heart, Lung, and Blood Institute, the National Institute on Minority Health and Health Disparities, and the American Heart Association. </p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>Huffman JE, Gaziano L, Al Sayed Z, et al. "<a href="https://www.nature.com/articles/s41588-025-02372-2" target="_blank">An African ancestry-specific nonsense variant in CD36 is associated with higher risk of dilated cardiomyopathy.</a>" <em>Nature Genetics</em>. Online October 31, 2025. DOI: 10.1038/s41588-025-02372-2.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/heart-disease" hreflang="en">Heart Disease</a></div> <div class="field__item"><a href="/broad-tags/patrick-ellinor" hreflang="en">Patrick Ellinor</a></div> </div> </div> </div> </div> </div> Thu, 18 Apr 2019 14:48:11 +0000 kzusi@broadinstitute.org 504271 at