The Prevalence of Factor V (G1691A), MTHFR (C677T) and PT (G20210A) Gene Mutations in Arterial Thrombosis

Background: Factor V (FV) [G1691A], methylenetetrahydrofolate reductase (MTHFR) [C677T] and prothrombin (PT) [G20210A] mutations are all well-recognized genetic risk factors for venous thrombosis. Although their prevalence in coronary artery disease has been established through debate, their role in patients with arterial thrombosis remains to be clarified. We investigated the prevalence rates of FV, MTHFR and PT gene mutations in patients with arterial thrombosis and in healthy controls.

Methods: All subjects and controls were from Central Anatolia. Thirty (8F) patients with median (range) age of 63 (16-88) years and 90 (52F) healthy controls with median (range) age of 31 (20-73) years were studied. DNA was extracted using conventional methods (proteinase K/phenol-chloroform) followed by PCR amplification and restriction endonuclease digestion (using Hinf I and Hind III). Digested PCR products were identified using agarose gel electrophoresis and stained with ethidium bromide.

Results: The prevalence rates of MTHFR and PT gene mutations were not significantly different between the groups. The prevalence rate of FV mutation was significantly higher in patients with arterial thrombosis. Coinheritance of FV and MTHFR was found in 67% of patients, which was significantly higher in arterial thrombosis, suggesting the MTHFR mutation as a synergistic risk factor for thrombosis in patients with FV mutation. PT gene mutation has no effect on arterial thrombosis.

Conclusion: The increased prevalence rate and coexistence of both FV and MTHFR found in this group of patients suggest that these mutations might increase the risk of arterial thrombosis.