1. Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors
- Author
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Nathan Pankratz, Peng Wei, Jennifer A Brody, Ming-Huei Chen, Paul S de Vries, Jennifer E Huffman, Mary Rachel Stimson, Paul L Auer, Eric Boerwinkle, Mary Cushman, Moniek P M de Maat, Aaron R Folsom, Oscar H Franco, Richard A Gibbs, Kelly K Haagenson, Albert Hofman, Jill M Johnsen, Christie L Kovar, Robert Kraaij, Barbara McKnight, Ginger A Metcalf, Donna Muzny, Bruce M Psaty, Weihong Tang, André G Uitterlinden, Jeroen G J van Rooij, Abbas Dehghan, Christopher J O'Donnell, Alex P Reiner, Alanna C Morrison, and Nicholas L Smith
- Subjects
Factor VIII ,Exome Sequencing ,von Willebrand Factor ,Genetics ,Fibrinogen ,Humans ,Original Article ,General Medicine ,Factor VII ,Polymorphism, Single Nucleotide ,Molecular Biology ,Hemostatics ,Genetics (clinical) - Abstract
Plasma levels of fibrinogen, coagulation factors VII and VIII and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and have been associated with the risk of clinical thrombotic events. To identify rare and low-frequency variants associated with these hemostatic factors, we conducted whole-exome sequencing in 10 860 individuals of European ancestry (EA) and 3529 African Americans (AAs) from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium and the National Heart, Lung and Blood Institute’s Exome Sequencing Project. Gene-based tests demonstrated significant associations with rare variation (minor allele frequency
- Published
- 2022