Genetic susceptibility to deep venous thromboembolism: the roles of inherited thrombophilia polymorphisms.

Abstract

Recently much attention has been paid to the possibly considerable role of the thrombophilic gene polymorphisms in the pathogenesis of deep venous thromboembolism (DVT). However, the reported results are controversial. Hence, this study aimed to disclose the association between factor VII (FVII) 10976G/A, angiotensin-converting enzyme (ACE; intron 16 I/D), glycoprotein Ia (GPIa) 807C/T, tissue-type plasminogen activator (t-PA; intron 8 D/I) and tissue-factor pathway inhibitor 536C/T polymorphisms and DVT. We investigated these gene polymorphisms in 693 study participants including 193 patients who showed clinical symptoms of DVT and 500 healthy individuals without both personal and family histories of thromboembolic disorders. Genotyping was performed using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. Comparison of genotypes distribution revealed that the FVII 10976G/A polymorphism was significantly related with DVT (P < 0.05), whereas there was no association between the ACE (intron 16 I/D), GPIa807C/T, t-PA (intron 8 D/I) and tissue-factor pathway inhibitor 536C/T gene polymorphisms and DVT (P > 0.05). In addition, the prevalence of homozygote genotype and mutant allele for FVII 10976G/A polymorphism was significantly higher in cases compared with controls (P < 0.05). Taken together, our data provide evidence to support the hypothesis that FVII 10976G/A polymorphism may be associated with a predisposition to DVT.