Possible Race and Gender Divergence in Association of Genetic Variations with Plasma von Willebrand Factor: A Study of ARIC and 1000 Genome Cohorts
Year: 2014
Type: article
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.
Source: PLoS ONE
Institutions: Chinese Academy of Medical Sciences & Peking Union Medical College, Fu Wai Hospital, State Key Laboratory of Cardiovascular Disease, Baylor College of Medicine, Tianjin Medical University General Hospital, University of North Carolina at Chapel Hill, National Health Research Institutes, University of Minnesota, University of Washington, Bloodworks Northwest
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,382
Awards: G118440752, G1238898755, G1325221871, G136105103, G206745601, Atherosclerosis Risk in Communities Study (ARIC), G215333750, G2513955590, CCSP FIELD CENTER, G2562080342, G2577029862, G25881238, COMMUNITY AND COHORT SURVEILLANCE PROGRAM, Proteolysis of ultralarge von Willebrand factor and metabolic syndrome-diabetes, CENTRAL HEMOSTATIS LABORATORY FOR CCSP, G3216861457, G3236609591, Ultra-Large von Willebrand Factor and Thrombotic Microangiopathy, G3648845612, G3667269547, G390162502, Atherosclerosis Risk in Communities Study (ARIC), The Human Genome Sequencing Center, G4587988226, G5026578359, G528395701, G5451084504, Atherosclerosis Risk in Communities Study (ARIC), G6203107232, G7497127823, G786153652, G793702358, G812579647, G8486527673, Atherosclerosis Risk in Communities Study (ARIC)
OpenAlex ID: W1982096415