Polymorphisms in thrombophilic genes are associated with deep venous thromboembolism in an Iranian population

It has been revealed that the inherited thrombophilia increases the risk of thrombosis in the venous system. To study the association of factor V G1691A, factor V HR2 (4070A/G), prothrombin G20210A, and PAI-1 (− 675 I/D, 5G/4G) polymorphisms with deep venous thromboembolism (DVT), these polymorphisms were investigated. A total of 193 patients who presented clinical symptoms of deep venous thromboembolism including 103 men and 90 women, and 500 healthy individuals without both personal and family histories of thromboembolic disorders including 275 men and 225 women were recruited into the study. Genotyping was carried out using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. Our results showed that the genotype distribution for FV (G1691A and A4070G) and PAI-1 4G/5G polymorphisms in DVT patients were significantly higher than healthy control (P < 0.05). Also, the mutant allele frequencies for all studied polymorphisms differed significantly between the case and control groups (P < 0.05). We concluded that the prevalence of FV (G1691A and A4070G) and PAI-1 4G/5G polymorphisms increased the risk of DVT occurrence in subjects. These findings provide additional evidence to support the hypothesis that thrombophilic gene polymorphisms are involved in vascular thromboembolism.