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

Niek Verweij, Irene Mateo Leach, Aaron Isaacs, Dan E. Arking, Joshua C. Bis, Tune H. Pers, Marten E. Van Den Berg, Leo Pekka Lyytikäinen, Phil Barnett, Xinchen Wang, Elsayed Z. Soliman, Cornelia M. Van Duijn, Mika Kähönen, Dirk J. Van Veldhuisen, Jan A. Kors, Olli T. Raitakari, Claudia T. Silva, Terho Lehtimäki, Hans L. Hillege, Joel N. HirschhornLaurie A. Boyer, Wiek H. Van Gilst, Alvaro Alonso, Nona Sotoodehnia, Mark Eijgelsheim, Rudolf A. De Boer, Paul I W De Bakker, Lude Franke, Pim Van Der Harst, Melanie van der Klauw, Gerjan Navis, Hans Ormel, Dirkje Postma, Judith Rosmalen, Joris Slaets, Ronald Stolk, Bruce Wolffenbuttel, Behrooz Alizadeh, Marike Boezen, Marcel Bruinenberg, Noortje Festen, Harold Snieder, Cisca Wijmenga

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20 Scopus citations


© The Author 2016. Published by Oxford University Press.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.
Translated title of the contributionVeintiocho loci genéticos asociados con las amplitudes de onda ST-T del electrocardiograma
Original languageEnglish (US)
Pages (from-to)2093-2103
Number of pages11
JournalHuman Molecular Genetics
Issue number10
StatePublished - May 15 2016


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