MTHFRC677T Polymorphism and Hyperhomocysteinemia in Ischemic Stroke Patients

Abstract

Background: Homocysteine is an intermediate sulfur amino acid of methionine metabolism. Hyperhomocysteinemia, characterized by increased level of homocysteine, is an independent and modifiable vascular risk factor which metabolic pathway involves vitamins B6, folate and vitamin B12. Objective: We compared the prevalence of MTHFRC677T polymorphism, homocysteine folate and vitamin B12 in ischemic stroke patient’s subgroups. Methods: We conducted a cross-sectional analytical study. The study included 128 consecutive ischemic stroke patients associated with hyperhomocysteinemia. The MTHFRC677T polymorphism was investigated by TaqMan probes (thermos Fisher Scientific) combined with polymerase chain reaction (PCR). We compared the prevalence of MTHFRC677T polymorphism and homocysteine level in ischemic stroke patient’s subgroups. We adjusted the variable homocysteine level to the covariates, MTHFR polymorphism, folate and vitamin B12 with ANCOVA. Results: The sex ratio (men/women) was 1.5 with an average age of 60 years. The prevalence of MTHFRC677T polymorphism was 19.5% with 18% CT and 1.5% TT. Homocysteine level was 29.89 µmol/l in wildtype patients, 26.54 µmol/l in patients with CT genotype, and 56.17 µmol/l in patients with TT genotype (t=2.04, p=0.033, CI 95% [0.017; 0.407]). The MTHFR polymorphism prevalence, homocysteine, folate and vitamin B12 level did not differ between large brain infarction and multiple small brain infarction patients respectively (chi square: Qobs=0.05, p=0.94, 95% CI; ttest: t=0.716, df=126, p=0.475, 95% CI). Conclusion: The MTHFRT677T genotype increases homocysteine level. MTHFR polymorphism and homocysteine did not influence the subtypes of brain ischemic stroke.