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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.

Original publication




Journal article


Human molecular genetics

Publication Date





2093 - 2103


Department of Cardiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 301 Binney Street, Cambridge, MA 02142, USA Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, The Netherlands.


LifeLines Cohort Study, Heart Conduction System, Humans, Death, Sudden, Cardiac, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Repressor Proteins, Electrocardiography, Polymorphism, Single Nucleotide, Female, Male, Shab Potassium Channels, Shal Potassium Channels, Basic Helix-Loop-Helix Transcription Factors, Brugada Syndrome, Arrhythmias, Cardiac, Genome-Wide Association Study, NAV1.5 Voltage-Gated Sodium Channel, Cardiac Conduction System Disease