Prothrombin, Factor-V Leiden, and Plasminogen Activator Inhibitor Type 1 Gene Polymorphisms in Hemodialysis Patients with/without Arteriovenous Fistula Thrombosis

Background and Aims: Factor V Leiden mutation (G1691A) has been recognized to be the most prevalent genetic risk factor for venous thrombosis. Other common risk factor for venous thrombosis is Prothrombin 20210 G-A alteration, which causes a gain of function in the coagulation system with an increase of prothrombin levels, associated with an increased potential to form thrombin. Plasminogen activator inhibitor type 1 (PAI-1) 4G/5G polymorphism is the most frequently studied in thrombotic events. Aim of this study was to investigate the relationship between these polymorphisms and arteriovenous fistula (AVF) thrombosis in hemodialysis (HD) patients. Methods: The study included 31 HD patients with AVF thrombosis and 51 HD patients without AVF thrombosis. DNA was extracted from peripheral blood samples from the patient and control groups. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods were used to identify the polymorphisms. Results: There were no significant differences between HD patients with and without AVF thrombosis in terms of Factor V Leiden and Prothrombin G20210A mutations. PAI-1 4G allele in heterozygous state have an effect on the thrombosis risk in HD patients (O.R= 4.271). Conclusions: Only carrying PAI-1 4G/5G genotype had an additional risk for thrombosis in HD patients.