KNG1 Ile581Thr and susceptibility to venous thrombosis.

Three single nucleotide polymorphisms (SNPs) were recently found to be associated with activated partial thromboplastin time (aPTT). As shortened aPTT levels have been observed in patients suffering from venous thrombosis (VT), we investigated the effects of these three aPTT-associated SNPs, rs2731672, rs9898 and rs710446, on the risk of VT in a sample of 1110 healthy individuals and 1542 VT patients. Among the three tested SNPs, only rs710446 was associated with VT risk, the rs710446-C allele being associated with increased risk of VT (OR = 1.20 [1.07 - 1.34], p = 0.0012). This association was also observed in an independent sample of 590 controls and 596 patients (OR = 1.17 [0.89 - 1.54], p = 0.059). We also confirmed that the rs710446-C allele was associated with decreased aPTT levels making this non synonymous Ile581Thr variant a new genetic risk factor for VT.