Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.

Hum Mol Genet
Authors
Abstract

The ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype-phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function. These associations may provide insights in the spatiotemporal contribution of genetic variation influencing cardiac repolarization and provide novel leads for future functional follow-up.

Year of Publication
2016
Journal
Hum Mol Genet
Volume
25
Issue
10
Pages
2093-2103
Date Published
2016 May 15
ISSN
1460-2083
URL
DOI
10.1093/hmg/ddw058
PubMed ID
26962151
PubMed Central ID
PMC5062578
Links
Grant list
R01 DK075787 / DK / NIDDK NIH HHS / United States