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Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts.

TitlePossible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts.
Publication TypeJournal Article
Year of Publication2014
AuthorsZhou Z, Yu F, Buchanan A, Fu Y, Campos M, Wu KK, Chambless LE, Folsom AR, Boerwinkle E
Secondary AuthorsDong J-F
JournalPLoS One
Volume9
Issue1
Paginatione84810
Date Published2014
ISSN1932-6203
KeywordsAfrican Continental Ancestry Group, Atherosclerosis, Cohort Studies, Demography, European Continental Ancestry Group, Female, Gene Frequency, Genetic Variation, Genome, Human, Haplotypes, Humans, Male, Polymorphism, Single Nucleotide, Sex Characteristics, von Willebrand Factor
Abstract

The synthesis, secretion and clearance of von Willebrand factor (VWF) are regulated by genetic variations in coding and promoter regions of the VWF gene. We have previously identified 19 single nucleotide polymorphisms (SNPs), primarily in introns that are associated with VWF antigen levels in subjects of European descent. In this study, we conducted race by gender analyses to compare the association of VWF SNPs with VWF antigen among 10,434 healthy Americans of European (EA) or African (AA) descent from the Atherosclerosis Risk in Communities (ARIC) study. Among 75 SNPs analyzed, 13 and 10 SNPs were associated with VWF antigen levels in EA male and EA female subjects, respectively. However, only one SNP (RS1063857) was significantly associated with VWF antigen in AA females and none was in AA males. Haplotype analysis of the ARIC samples and studying racial diversities in the VWF gene from the 1000 genomes database suggest a greater degree of variations in the VWF gene in AA subjects as compared to EA subjects. Together, these data suggest potential race and gender divergence in regulating VWF expression by genetic variations.

DOI10.1371/journal.pone.0084810
Alternate JournalPLoS One
PubMed ID24465435
PubMed Central IDPMC3894939
Grant ListN01-HC-55022 / HC / NHLBI NIH HHS / United States
N01-HC-55016 / HC / NHLBI NIH HHS / United States
N01-HC-55021 / HC / NHLBI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
N01-HC-55019 / HC / NHLBI NIH HHS / United States
HL71895 / HL / NHLBI NIH HHS / United States
N01-HC-55015 / HC / NHLBI NIH HHS / United States
N01-HC-55020 / HC / NHLBI NIH HHS / United States
HL085769 / HL / NHLBI NIH HHS / United States
N01-HC-55018 / HC / NHLBI NIH HHS / United States