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Publication : Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.

First Author	Klarin D	Year	2019
Journal	Nat Genet	Volume	51
Issue	11	Pages	1574-1579
PubMed ID	31676865	Mgi Jnum	J:291280
Mgi Id	MGI:6446299	Doi	10.1038/s41588-019-0519-3
Citation	Klarin D, et al. (2019) Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. Nat Genet 51(11):1574-1579

abstractText

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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44 Authors

Kabrhel C,
Sun YV,
Reaven P,
Concato J,
Shao Q,
INVENT Consortium.,
Miller DR,
Boden WE,
Saleheen D,
Haessler J,
Huang Y,
Busenkell E,
Chang KM,
Damrauer SM,
Assimes TL,
Rader DJ,
Huang J,
DuVall S,
O'Donnell CJ,
Kooperberg C,
Chaffin M,
Klarin D,
Henke P,
Min Lee K,
Judy R,
Pyarajan S,
Natarajan P,
Smith NL,
Haas M,
Aragam K,
Wilson PWF,
Lynch J,
Kathiresan S,
Reiner AP,
Cho K,
Lindström S,
Levin M,
Obi A,
Tsao PS,
Veterans Affairs’ Million Veteran Program.,
Vujkovic M,
Gaziano JM,
Huffman JE,
Trégouët DA

6 Bio Entities

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