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目的探讨N5,N10-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。
Objective To investigate the relationship between N5, N10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the risk of alcohol abuse and ischemic stroke (IS). Methods The polymorphisms of MTHFR gene in 454 patients with IS and 334 patients without IS were detected by PCR and DHPLC. Logistic regression model was used to analyze the relationship between genotype, alcohol abuse and the risk of ischemic stroke. Results The frequency of T allele in alcoholism group was significantly increased (P <0.05). The relative risk of ischemic stroke was 2.633, while that of CC genotype was 0.360. In contrast, there was no significant difference (P> 0.10) in the distribution of genotype and allele frequencies of MTHFR genes among non-alcoholic groups compared with the control group. CONCLUSION: Alcohol abusers carrying the T allele are susceptible to ischemic stroke. However, alcohol abusers with the C allele are not susceptible to ischemic stroke, and MTHFR is associated with alcohol abuse during the onset of ischemic stroke Synergy.