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

摘要

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 × 10⁻³⁰), KNG1 (rs710446, combined p = 9.52 × 10⁻²²), and HRG (rs9898, combined p = 1.34 × 10⁻¹¹). These three SNPs explain ∼18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.