Association between MTHFR C677T Polymorphism and Ischemic Stroke

ABSTRACT

BACKGROUND: Hyperhomocysteinemia is an independent risk factor for ischemic stroke. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been known to result in reduced MTHFR enzyme activity, and induced hyperhomocysteinemia. Recently, a significant association with ischemic stroke was identified for the homozygous T allele of the MTHFR polymorphism by meta-analysis. This current study was undertaken to determine whether MTHFR C677T polymorphism was associated with ischemic stroke in the Korean population. METHODS: We enrolled 1292 patients with ischemic stroke and 457 healthy individuals and measured their fasting plasma homocysteine levels and analyzed the C677T polymorphisms in the MTHFR gene. RESULTS: The prevalence of the homozygous mutation was significantly higher in ischemic stroke patients (23.9%) than in controls (13.8%; por=11.80 micro mol/L), moderate (8.80 to 11.79 micro mol/L), and low (<8.80 micro mol/L) groups, the AOR was significantly greater in subjects with the high group compared with the low group (AOR, 3.61; 95%CI, 2.63 to 4.95). The AOR and 95% confidence intervals was 1.74 (1.27 to 2.37) for the TT genotype in patients with ischemic stroke compared to controls. CONCLUSIONS: We found that the MTHFR C677T polymorphism is an independent risk factor for ischemic stroke in Koreans, and our findings may have the predictive value of ischemic stroke by analyzing genetic defects.