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.
Highlights
Introduction vonWillebrand factor (VWF) is a multimeric glycoprotein ligand essential in initiating hemostasis at sites of vessel injury [1]
An elevated plasma level of von Willebrand factor (VWF) is an independent risk factor for coronary heart disease (CHD), ischemic stroke, and peripheral artery disease [4;5], whereas low VWF antigen and activity could result in bleeding associated with von Willebrand disease (VWD) [6]
We have previously identified intronic single nucleotide polymorphisms (SNPs) and their haplotypes that are associated with plasma VWF levels in 7,856 subjects of European descent (EA) from the Atherosclerosis Risk in Communities (ARIC) cohort [16]
Summary
Introduction vonWillebrand factor (VWF) is a multimeric glycoprotein ligand essential in initiating hemostasis at sites of vessel injury [1]. We have previously identified intronic single nucleotide polymorphisms (SNPs) and their haplotypes that are associated with plasma VWF levels in 7,856 subjects of European descent (EA) from the Atherosclerosis Risk in Communities (ARIC) cohort [16]. We further examined potential race and gender differences in this association between VWF antigen and VWF gene variations.
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