Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation
By
Jonas B. Nielsen,
Rosa B. Thorolfsdottir,
Lars G. Fritsche,
Wei Zhou,
Morten W Skov,
Sarah E Graham,
Todd J Herron,
Shane McCarthy,
Ellen M. Schmidt,
Gardar Sveinbjornsson,
Ida Surakka,
Michael R Mathis,
Masatoshi Yamazaki,
Ryan D Crawford,
Maiken E Gabrielsen,
Anne Heidi Skogholt,
Oddgeir L Holmen,
Maoxuan Lin,
Brooke N. Wolford,
Rounak Dey,
Håvard Dalen,
Patrick Sulem,
Jonathan H Chung,
Joshua D Backman,
David O. Arnar,
Unnur Thorsteinsdottir,
Aris Baras,
Colm O’Dushlaine,
Anders G Holst,
Xiaoquan Wen,
Whitney Hornsby,
Frederick E Dewey,
Michael Boehnke,
Sachin Kheterpal,
Seunggeun Lee,
Hyun M Kang,
Hilma Holm,
Jacob Kitzman,
Jordan A. Shavit,
José Jalife,
Chad M. Brummett,
Tanya M Teslovich,
David J Carey,
Daniel F. Gudbjartsson,
Kari Stefansson,
Goncalo R. Abecasis,
Kristian Hveem,
Cristen J. Willer
Posted 04 Jan 2018
bioRxiv DOI: 10.1101/242149
(published DOI: 10.1038/s41588-018-0171-3)
To understand the genetic variation underlying atrial fibrillation (AF), the most common cardiac arrhythmia, we performed a genome-wide association study (GWAS) of > 1 million people, including 60,620 AF cases and 970,216 controls. We identified 163 independent risk variants at 111 loci and prioritized 165 candidate genes likely to be involved in AF. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans or mice (MYH6, NKX2-5, PITX2, TBC1D32, TBX5), or near genes important for striated muscle function and integrity (e.g. MYH7, PKP2, SSPN, SGCA). Experiments in rabbits with heart failure and left atrial dilation identified a heterogeneous distributed molecular switch from MYH6 to MYH7 in the left atrium, which resulted in contractile and functional heterogeneity and may predispose to initiation and maintenance of atrial arrhythmia.
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