MTHFR基因多态性和酗酒与缺血性脑卒中的相关性

目的探讨N^5,N^10-亚甲基四氢叶酸还原酶（MTHFR）基因多态性和酗酒与缺血性脑卒中（IS）发病风险的关系。方法应用聚合酶链反应（PCR）和变性高效液相色谱（DHPLC）技术筛查454例IS患者（病例组）和334例非IS患者（对照组）的MTHFR基因的多态分布，采用非条件Logistic回归模型分析基因型、酗酒情况与缺血性脑卒中发病风险的关系。结果酗酒群体的T等位基因的频率显著性升高（P〈0．05），患缺血性脑卒中的相对危险度为2．633；而携带有CC基因型则为0．360。相反，非酗酒群体的MTHFR基因的各基因型和等位基因频率的分布与对照组相比，均无显著性差异（P〉0．10）。结论携带T等位基因的酗酒群体容易患缺血性脑卒中，但携带C等位基因的酗酒群体不容易患缺血性脑卒中，MTHFR基因与酗酒在缺血性脑卒中的发病过程中存在协同作用。

Correlation of polymorphism of mehylenetrahydrofolate reductase gene and alcohol abuse with ischemic stroke

Objective To investigate correlation of ischemic stroke（IS） with methylenetrahydrofolate reductas（MTHFR） gene and alcohol abuse. Methods Four hundred and fifty -four patients and 334 controls were recruited in this observation. CT polymorphisms of MTHFR gene were detected by polymerase chain reaction （PCR） and denaturing high performance liquid chromatogram（DHPLC）. The correlation of ischemic stroke with methylenetrahydrofolate reductas gene and alcohol abuse were analyzed by odds ratios （ORs） and 95% confidence intervals （95% CIs）. The value of 95% CIs were calculated by unconditional logistic regression. Results The frequencies of T alleles in ischemic stroke patients with alcohol abuse were significantly higher than those of the controls with OR of 2.63, but the OR of CC genotypes ischemic stroke patients with alcohol abuse was 0.360, individually. On the other hand, the OR of all genotypes and alleles in ischemic stroke patients with non - alcohol abuse patients were not significantly different than those in controls. Conclusion The alcohol abusers with T alleles are likely to suffer from ischemic stroke, but those with C alleles are not likely to suffer from ischemic stroke, and there are interactions between alcohol abuse and MTHFR gene in the pathogenesis of ischemic stroke.