title: New gene variants associated with venous thrombosis: a replication study in White and Black Americans.
abstract: BACKGROUND
  We evaluated 10 single-nucleotide polymorphisms (SNPs) identified in three European case-control studies as risk factors for venous thrombosis.
  
  
  OBJECTIVE
  We sought to replicate the positive findings from this report among Whites and to evaluate the association of these SNPs with venous thrombosis for the first time among Blacks.
  
  
  METHODS
  These SNPs were evaluated in a case-control study of deep vein thrombosis and pulmonary embolism that included 1076 cases and 1239 controls. About 50% of subjects were African Americans. We measured plasma factor (F) XI on a subset of subjects.
  
  
  RESULTS
  Among Whites, positive findings for rs13146272 in the CYP4V2 gene, for rs3087505 in the KLKB1 gene and for rs3756008 and rs2036914 in the F11 gene were found. We did not find significant associations for rs2227589 in the SERPINC1 gene and for rs1613662 in the GP6 gene. Among Blacks, rs2036914 in F11 and rs670659 in RGS7 were related to venous thrombosis, but the study had limited statistical power for many SNPs. Among Blacks, plasma FXI was related to two SNPs and the OR relating to the 90th percentile of the control distribution of plasma FXI was 2.6 (95% CI, 1.4, 5.0).
  
  
  CONCLUSIONS
  Our study supports the finding that genetic variants in the F11 gene are risk factors for venous thrombosis among both Whites and Blacks, although the findings in Blacks require confirmation. A meta-analysis of five case-control studies indicates that rs2227589 in the SERPINC1 gene, rs13146272 in the CYP4V2 gene and rs1613662 in the GP6 gene are risk factors for venous thrombosis among Whites.
authors.affiliation: Emory University, Rollins School of Public Health, Atlanta, GA, USA. haustin@emory.edu
authors.forename: H
authors.initials: H
authors.lastname: Austin
authors.forename: C
authors.initials: C
authors.lastname: De Staercke
authors.forename: C
authors.initials: C
authors.lastname: Lally
authors.forename: I D
authors.initials: ID
authors.lastname: Bezemer
authors.forename: F R
authors.initials: FR
authors.lastname: Rosendaal
authors.forename: W C
authors.initials: WC
authors.lastname: Hooper
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000990:Antithrombin III / Q000235:genetics; D016022:Case-Control Studies; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D000072470:Cytochrome P450 Family 4; D005172:Factor XI / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005952:Glucose-6-Phosphatase / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020842:Plasma Kallikrein / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011655:Pulmonary Embolism / Q000097:blood / Q000235:genetics; D012307:Risk Factors; D020246:Venous Thrombosis / Q000097:blood / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D000990:Antithrombin III; D005172:Factor XI; D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4; D005952:Glucose-6-Phosphatase; D020842:Plasma Kallikrein