The etiology of venous thromboembolic disease (VTE) has been the subject of several recent discoveries, particularly on genetic predisposing factors. Inherited deficiencies of coagulation proteins, such as Factor V Leiden and prothrombin G20210A, explain a small fraction of VTE. Other coagulation abnormalities are likely to contribute to the development of VTE.

The authors analysed the association of 290 common SNPs of 51 thrombosis and inflammation genes with VTE. Genetic variants of 4 genes encoding i) FXIII subunit A, ii) Factor VII-activating protease (FSAP/HABP2), iii) protease activated receptor-1, and iv) the urokinase receptor showed the strongest evidence for association with VTE.

A variant allele of FXIII subunit A was associated with 1.66-fold increased risk of VTE. Alleles of HABP2 (rs6585234 and rs3862019), protease activated receptor-1 (rs253061 and rs153311), and Urokinase-receptor (rs344782) were each associated with lower risk of VTE.

The HABP2 rs3862019 variant allele was also associated with lower activity levels of coagulation factors FVIII, FIX, FX and plasminogen.

Authors and Source:
Reiner AP, Lange LA, Smith NL, Zakai NA, Cushman M, Folsom AR. J Thromb Haemost. 2009 Sep;7(9):1499-1505

Title:
Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.