Title | Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. |
Publication Type | Journal Article |
Year of Publication | 2022 |
Authors | Pankratz, N, Wei, P, Brody, JA, Chen, M-H, de Vries, PS, Huffman, JE, Stimson, MRachel, Auer, PL, Boerwinkle, E, Cushman, M, de Maat, MPM, Folsom, AR, Franco, OH, Gibbs, RA, Haagenson, KK, Hofman, A, Johnsen, JM, Kovar, CL, Kraaij, R, McKnight, B, Metcalf, GA, Muzny, DM, Psaty, BM, Tang, W, Uitterlinden, AG, van Rooij, JGJ, Dehghan, A, O'Donnell, CJ, Reiner, AP, Morrison, AC, Smith, NL |
Journal | Hum Mol Genet |
Volume | 31 |
Issue | 18 |
Pagination | 3120-3132 |
Date Published | 2022 Sep 10 |
ISSN | 1460-2083 |
Keywords | Exome Sequencing, Factor VII, Factor VIII, Fibrinogen, Hemostatics, Humans, Polymorphism, Single Nucleotide, von Willebrand Factor |
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 |
DOI | 10.1093/hmg/ddac100 |
Alternate Journal | Hum Mol Genet |
PubMed ID | 35552711 |
PubMed Central ID | PMC9476613 |
Grant List | HHSN271201100004C / NH / NIH HHS / United States R01 HL139553 / HL / NHLBI NIH HHS / United States R01 HL059367 / HL / NHLBI NIH HHS / United States / RA / ARRA NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States MR/S019669/1 / MRC_ / Medical Research Council / United Kingdom R01 HL154385 / HL / NHLBI NIH HHS / United States R01 HL105756 / HL / NHLBI NIH HHS / United States R01 HL116720 / HL / NHLBI NIH HHS / United States |
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
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