MTHFR C677T 유전자 다형성과 다발성 뇌경색 환자군에서의 비교위험도 분석

Abstract

Department of Neurology, and Institute for Clinical Research* College of Medicine Pochon CHA University Background & Objectives : Hyperhomocysteinemia has been known to be an independent risk factor for cerebrovascular disease. Elevated plasma homocysteine levels can result from defective remethylation of homocysteine to methionine due to decreased activity of the enzyme, methylenetetrahydrofolate reductase(MTHFR). A genetic aberration in the MTHFR gene has been shown to result in reduced MTHFR activity. However, study results examining the association between the C677T MTHFR mutation and ischemic stroke are still controversial. This study was undertaken to determine whether the C677T MTHFR gene mutation was associated with particular subtypes of ischemic stroke. Methods : The case group consisted of 129 patients with ischemic stroke and the control group consisted of 157 healthy individuals. Total plasma homocysteine level was determined by radioenzymatic method. A segment of the MTHFR was tested by polymerase chain reaction with restriction enzyme, HinfI. The diagnosis of cerebral infarction of all study patients was confirmed by MRI of the brain. Results : The homocysteine level in plasma was significantly higher in ischemic stroke patients 10.38±6.44 μmol/L) than in controls(8.00±2.40)(P<0.05). It was also high in patients with the multiple infarction(11.57±7.38)(P<0.05). On the other hand, the prevalence of the homozygote mutation was not significantly higher in ischemic stroke patients(20.2%) than in controls(13.4%)(adjusted OR 1.39, 95% CI 0.65 to 2.96). The odds ratio and 95% confidence intervals adjusted for the other risk factors was 2.73(1.09 to 6.85) for the TT genotype in patients with the multiple infarction(28.0%) compared to controls. The 677TT genotype was increased in the multiple infarction compared to the single infarction(9.3%)(adjusted OR 3.80, 95% CI 1.07 to 13.56). Conclusions : Our findings suggest that the MTHFR homozygote mutation(677TT) maay be a risk predictor for a certain subtype of ischemic stroke, such as the multiple infarction. Korean Journal of Stroke 2002;4(1): 18~24