Methylene Tetrahydrofolate Reductase Gene Polymorphism and the Risk of Ischemic Stroke in Type 2 Diabetic Egyptian Patients

Background: A common C677T mutation of methylenetetrahydrofolate reductase (MTHFR) gene is reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases and ischemic stroke (IS). Aim: To clarify the possible role of the MTHFR 677C>T polymorphism in predisposition to IS and to assess the relationship of allelic variants of MTHFR gene with homocysteine (Hcy) plasma levels and other risk factors of atherosclerosis and IS in type 2 diabetic Egyptians. Subjects: Group I: 40 healthy non diabetic volunteers. Group II: 40 patients with type 2 diabetes mellitus (DM) without IS. Group III: 40 patients with type 2 DM and IS. Methods: Fasting blood samples were collected for research investigations. HPLC technique was used to estimate plasma Hcy levels. Polymerase chain reaction (PCR) assay with restriction fragment length polymorphism (RFLP) were used to examine the MTHFR polymorphism. Results: The frequencies of T allele and TT genotype were significantly higher in group III patients when compared to group I and group II (P<0.001) .Total plasma Hcy and uric acid levels were significantly higher in group III patients who carry the TT genotype. Conclusion: The MTHFR 677C>T polymorphism is associated with elevated Hcy and uric acid plasma levels which increases the atherogenic risk and the prevalence of IS in type 2 diabetic Egyptian patients.