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Journal of the Korean Neurological Association 2005;23(5): 607-613.
MTHFR C677T 유전자 다형성과 허혈성 뇌졸중의 상관 관계
최병옥, 김희진 조현지 김지영 김숙희 이정화 윤지영 박기덕 최경규
이화여자대학교 의과대학 신경과학교실
Association between MTHFR C677T Polymorphism and Ischemic Stroke
Byung-Ok Choi
Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea
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%; p<0.01). Homocysteine levels in the plasma were significantly higher in ischemic stroke patients (11.76±4.94 μmol/L) than in controls (9.21±3.26 μmol/L: p<0.001). In controls, the homocysteine levels were significantly higher in the TT genotype than in the CC+CT genotypes (adjusted odds ratio (AOR), 1.22; 95%CI, 1.11-1.34). When the homocysteine levels were stratified into high (≥11.80 μmol/L), moderate (8.80 to 11.79 μmol/L), and low (<8.80 μmol/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. KeyWords:MTHFR, Polymorphism, Homocysteine, Risk, Stroke