皮质下缺血性血管性疾病的MTHFR基因多态性

Methylenetetrahydrofolate reductase gene polymorphisms in patients with subcortical ischemic vascular disease

目的研究皮质下缺血性血管性疾病(subcortical ischemic vascualar disease,SIVD)与N5,N10-亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T多态性的关系。方法应用聚合酶链反应(polymerase chain reaction,PCR)技术和限制性酶切片段长度多态性(restriction fragment length polymorphism,RFLP)分析技术检测46例SIVD患者和43名正常人的MTHFR基因C677T多态性。结果 SIVD组T/T型、C/T型基因频率分别为36.96%、34.78%,分别高于对照组(20.93%、23.26%)。SIVD组T等位基因频率明显高于对照组(分别为54.35%、32.56%,P<0.01)。T/T型、C/T型患SIVD风险度较C/C型分别高3.487倍(95%CI,1.1217～9.993)和2.954倍(95%CI,1.045～8.350)。结论 MTHFR基因T等位基因可能是SIVD的遗传易感因子,而C等位基因则具有一定保护作用,MTHFR基因C677T点突变与SIVD发病密切相关。

Objective To study the association between subcortical ischemic vascular disease（SIVD） and methylenetetrahydrofolate reductase gene（MTHFR） polymorphisms.Methods MTHFR gene C677T polymorphisms were determined in 46 patients with SIVD and 43 controls using polymerase chain reaction（PCR） and restriction fragment length polymorphism（RFLP）.Results The frequency of MTHFR C677T homogenetic type and heterogenetic type in SIVD group were 36.96% and 34.78% respectively,which were higher than those in the control group（20.93% and 23.26%）.The frequency of the 677T allele was much higher in SIVD group than in the control group（54.35% and 32.56% respectively,P0.01）.The relative risk of SIVD associated with the T/T,C/T genotype versus the C/C genotype was 3.487（95%CI,1.1217～9.993） and 2.954（95%CI,1.045～8.350）.Conclusions The T allele contributes to genetic susceptibility for SIVD while the C allele is a protective factor for SIVD.The MTHFR C677T gene polymorphism is closely associated with SIVD.