期刊
NATURE GENETICS
卷 51, 期 11, 页码 1574-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-019-0519-3
关键词
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资金
- Department of Veterans Affairs Office of Research and Development, Million Veteran Program [MVP000]
- Department of Veterans Affairs [I01-01BX03340, I01-BX003362, I01-CX001025]
- VA Informatics and Computing Infrastructure [VA HSR RES 13-457]
- Veterans Administration [IK2-CX001780]
- Massachusetts General Hospital
- Donovan Family Foundation
- National Institutes of Health (NIH) [R01HL127564]
- NIH/National Heart, Lung, and Blood Institute (NHLBI) [K08HL140203, R01HL142711]
- EPIDEMIOM-VTE Senior Chair from the Initiative of Excellence of the University of Bordeaux
- NIH [HL116854]
- NHLBI, NIH
- US Department of Health and Human Services [HHSN268201600018C, HHSN268201600001C, HHSN268201600002C, HHSN268201600003C, HHSN268201600004C]
Venous thromboembolism is a significant cause of mortality(1), yet its genetic determinants are incompletely defined. We performed a discovery genome-wide association study in the Million Veteran Program and UK Biobank, with testing of approximately 13 million DNA sequence variants for association with venous thromboembolism (26,066 cases and 624,053 controls) and meta-analyzed both studies, followed by independent replication with up to 17,672 venous thromboembolism cases and 167,295 controls. We identified 22 previously unknown loci, bringing the total number of venous thromboembolism-associated loci to 33, and subsequently fine-mapped these associations. We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent incident venous thromboembolism risk to carriers of the established factor V Leiden p.R506Q and prothrombin G20210A mutations. Our data provide mechanistic insights into the genetic epidemiology of venous thromboembolism and suggest a greater overlap among venous and arterial cardiovascular disease than previously thought.
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