Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

ABSTRACT: Activated partial thromboplastin time (aPTT) is associated with risk of thrombosis and coagulation disorders. We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). These three SNPs explain approximately 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

SUBMITTER: Houlihan LM 

PROVIDER: S-EPMC2850435 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature