Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time

Activated partial thromboplastin time (aPTF) 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 similar to 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.