【摘要】 目的前瞻性观察N5、N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性对缺血性卒中(IS)再发及死亡事件发生的影响,为进一步对IS综合干预提供有用情报。方法检测245例IS患者及52例健康对照者空腹血浆同型半胱氨酸(Hcy)水平及MTHFR基因C677T多态性,并在5年内追踪观察患者IS再发及死亡事件的发生情况。结果T/T纯合型IS再发率显著高于C/T杂合型和C/C野生型(P<0.05),C/T杂合型高于C/C野生型,但差异无显著性(P>0.05)。各基因型之间随访脑梗死再发率、TIA再发率、多次再发患者比例、及死亡发生率差异均无显著性,但均为T/T纯合型高于C/T杂合型,后者高于C/C野生型。Logistic回归分析显示Hcy升高是再发IS的独立危险因素(OR为1.171,95%CI:1.118～1.227,P<0.01),而MTHFR基因C677T突变未进入回归模型。结论血浆Hcy水平升高与IS再发密切相关,MTHFR基因C677T突变导致血浆Hcy水平升高,是再发IS遗传易感因素。更多还原

【Abstract】 Objective To prospectively observe the possible effect of the gene C677T polymorphism of methylene tetrahydrofolate reductase(MTHFR) on the recurrence of ischemic stroke(IS) and death events in hope for providing a new theoretical evidence for the therapy and the prophylaxis of IS.Methods We determined the free plasma homocysteine(Hcy) and MTHFR gene C677T polymorphism of 245 patients with IS and 52 age and gender-matched healthy controls,then we observed the recurrence of IS and death events within a 5-years follow-period.Results The rate of recurrent IS of T/T genotype group was significantly higher than C/T and C/C genotype group(P<0.05),and that of C/T genotype group was higher than C/C genotype group,but the deference was not statistically significant.The deference of the rate of recurrent cerebral infarction,TIA,the proportion of patients who suffered multiple recurrence,and the death rate among the 3 genotype groups was not statistically significant(P>0.05),but the occurred rate of every kind of event in T/T genotype group was higher than C/T genotype group,and that of the latter was higher than C/C genotype group.By forward stepwise logistic analysis,we found that Hcy was an independent risk factor of recurrent IS(OR=1.171;95%CI:1.118~1.227;P<0.01),but gene C677T mutation of MTHFR was not in the regression model.Conclusions Hcy is closely correlated with prognosis of recurrent IS.Gene C677T mutation of MTHFR can cause the rising of Hcy and was susceptibility gene of recurrent IS.更多还原