Title | Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Huffman, JE, de Vries, PS, Morrison, AC, Sabater-Lleal, M, Kacprowski, T, Auer, PL, Brody, JA, Chasman, DI, Chen, M-H, Guo, X, Lin, L-A, Marioni, RE, Müller-Nurasyid, M, Yanek, LR, Pankratz, N, Grove, ML, de Maat, MPM, Cushman, M, Wiggins, KL, Qi, L, Sennblad, B, Harris, SE, Polasek, O, Riess, H, Rivadeneira, F, Rose, LM, Goel, A, Taylor, KD, Teumer, A, Uitterlinden, AG, Vaidya, D, Yao, J, Tang, W, Levy, D, Waldenberger, M, Becker, DM, Folsom, AR, Giulianini, F, Greinacher, A, Hofman, A, Huang, C-C, Kooperberg, C, Silveira, A, Starr, JM, Strauch, K, Strawbridge, RJ, Wright, AF, McKnight, B, Franco, OH, Zakai, N, Mathias, RA, Psaty, BM, Ridker, PM, Tofler, GH, Völker, U, Watkins, H, Fornage, M, Hamsten, A, Deary, IJ, Boerwinkle, E, Koenig, W, Rotter, JI, Hayward, C, Dehghan, A, Reiner, AP, O'Donnell, CJ, Smith, NL |
Journal | Blood |
Volume | 126 |
Issue | 11 |
Pagination | e19-29 |
Date Published | 2015 Sep 10 |
ISSN | 1528-0020 |
Keywords | Cohort Studies, Factor VII, Factor VIII, Fibrinogen, Gene Frequency, Genetic Association Studies, Genetic Variation, Humans, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Potassium Channels, von Willebrand Factor |
Abstract | Fibrinogen, coagulation factor VII (FVII), and factor VIII (FVIII) and its carrier von Willebrand factor (vWF) play key roles in hemostasis. Previously identified common variants explain only a small fraction of the trait heritabilities, and additional variations may be explained by associations with rarer variants with larger effects. The aim of this study was to identify low-frequency (minor allele frequency [MAF] ≥0.01 and |
DOI | 10.1182/blood-2015-02-624551 |
Alternate Journal | Blood |
PubMed ID | 26105150 |
PubMed Central ID | PMC4566813 |
Grant List | P30 CA015704 / CA / NCI NIH HHS / United States R01 HL059367 / HL / NHLBI NIH HHS / United States UL1 TR000124 / TR / NCATS NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States MRC_G0700704 / / Medical Research Council / United Kingdom CSO_CZB/4/505 / / Chief Scientist Office / United Kingdom CSO_ETM/55 / / Chief Scientist Office / United Kingdom MRC_MR/K026992/1 / / Medical Research Council / United Kingdom UM1 CA182913 / CA / NCI NIH HHS / United States BB_BB/F019394/1 / / Biotechnology and Biological Sciences Research Council / United Kingdom MRC_MC_PC_U127561128 / / Medical Research Council / United Kingdom |