Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism.
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| Abstract | Genetic association studies have identified not only hundreds of susceptibility loci to immune-mediated diseases but also pinpointed causal amino-acid variants of HLA genes that contribute to many autoimmune reactions. Majority of non-HLA genetic variants are located within non-coding regulatory region. Expression QTL studies have shown that these variants affect disease mainly by regulating gene expression. We discuss recent findings on shared genetic loci between infectious and immune-mediated diseases and provide potential clues to explore genetic associations in the context of these infectious agents. We propose that the interdisciplinary studies (genetics-genomics-immunology-infection-bioinformatics) are the future post-GWAS approaches to advance our understanding of the pathogenesis of immune-mediated diseases. |
| Year of Publication | 2014
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| Journal | Curr Opin Immunol
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| Volume | 31
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| Pages | 51-7
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| Date Published | 2014 Dec
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| ISSN | 1879-0372
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| URL | |
| DOI | 10.1016/j.coi.2014.09.007
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| PubMed ID | 25458995
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| PubMed Central ID | PMC5080657
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| Grant list | P30 DK043351 / DK / NIDDK NIH HHS / United States
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