Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

TitleRare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Publication TypeJournal Article
Year of Publication2015
AuthorsHuffman, 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
JournalBlood
Volume126
Issue11
Paginatione19-29
Date Published2015 Sep 10
ISSN1528-0020
KeywordsCohort 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

DOI10.1182/blood-2015-02-624551
Alternate JournalBlood
PubMed ID26105150
PubMed Central IDPMC4566813
Grant ListP30 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