Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts.
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 subje...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0084810 |
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| author | Zhou Zhou Fuli Yu Ashley Buchanan Yuanyuan Fu Marco Campos Kenneth K Wu Lloyd E Chambless Aaron R Folsom Eric Boerwinkle Jing-fei Dong |
| author_facet | Zhou Zhou Fuli Yu Ashley Buchanan Yuanyuan Fu Marco Campos Kenneth K Wu Lloyd E Chambless Aaron R Folsom Eric Boerwinkle Jing-fei Dong |
| author_sort | Zhou Zhou |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8990785f894e452f9125e6db1d229d43 |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-8990785f894e452f9125e6db1d229d432025-08-20T03:46:24ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0191e8481010.1371/journal.pone.0084810Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts.Zhou ZhouFuli YuAshley BuchananYuanyuan FuMarco CamposKenneth K WuLloyd E ChamblessAaron R FolsomEric BoerwinkleJing-fei DongThe 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.https://doi.org/10.1371/journal.pone.0084810 |
| spellingShingle | Zhou Zhou Fuli Yu Ashley Buchanan Yuanyuan Fu Marco Campos Kenneth K Wu Lloyd E Chambless Aaron R Folsom Eric Boerwinkle Jing-fei Dong Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. PLoS ONE |
| title | Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. |
| title_full | Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. |
| title_fullStr | Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. |
| title_full_unstemmed | Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. |
| title_short | Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. |
| title_sort | possible race and gender divergence in association of genetic variations with plasma von willebrand factor a study of aric and 1000 genome cohorts |
| url | https://doi.org/10.1371/journal.pone.0084810 |
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