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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
Secondary AuthorsSmith 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, Potassium Channels, Sodium-Activated, 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 ListETM/55 / / Chief Scientist Office / United Kingdom
CZB/4/505 / / Chief Scientist Office / United Kingdom
R01 HL112064 / HL / NHLBI NIH HHS / United States
R01 HL120393 / HL / NHLBI NIH HHS / United States
P30 CA015704 / CA / NCI NIH HHS / United States
R01 HL059367 / HL / NHLBI NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
MR/K026992/1 / / Medical Research Council / United Kingdom
R01 HL105756 / HL / NHLBI NIH HHS / United States
P30 DK063491 / DK / NIDDK NIH HHS / United States
MC_PC_U127561128 / / Medical Research Council / United Kingdom
UM1 CA182913 / CA / NCI NIH HHS / United States
S10 OD020069 / OD / NIH HHS / United States
G0700704 / / Medical Research Council / United Kingdom
BB/F019394/1 / / Biotechnology and Biological Sciences Research Council / United Kingdom