Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation
Jonas B. Nielsen,
Rosa B. Thorolfsdottir,
Lars G. Fritsche,
Morten W Skov,
Sarah E Graham,
Todd J Herron,
Ellen M. Schmidt,
Michael R Mathis,
Ryan D Crawford,
Maiken E Gabrielsen,
Anne Heidi Skogholt,
Oddgeir L Holmen,
Brooke N. Wolford,
Jonathan H Chung,
Joshua D Backman,
David O. Arnar,
Anders G Holst,
Frederick E Dewey,
Hyun M Kang,
Jordan A. Shavit,
Chad M. Brummett,
Tanya M Teslovich,
David J Carey,
Daniel F. Gudbjartsson,
Goncalo R. Abecasis,
Cristen J. Willer
Posted 04 Jan 2018
bioRxiv DOI: 10.1101/242149 (published DOI: 10.1038/s41588-018-0171-3)
Posted 04 Jan 2018
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.
- Downloaded 3,059 times
- Download rankings, all-time:
- Site-wide: 1,390 out of 77,600
- In genetics: 116 out of 4,186
- Year to date:
- Site-wide: 5,116 out of 77,600
- Since beginning of last month:
- Site-wide: 16,990 out of 77,600
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!