亚甲基四氢叶酸还原酶基因C677T多态性与川东北人群缺血性脑卒中的关联

The research on the relationship between MTHFR C677T polymorphism and ischemic stroke in population in North-east Sichuan

目的 探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性与川东北地区人群急性缺血性脑卒中（IS）发病的相关性.方法 以70岁以下的大动脉粥样硬化脑梗死为研究对象,采用PCR-RFLP（限制性片段长度多态性）方法检测C677T的基因型,在3个遗传模式下分析C677T多态性与IS的相关性.结果 180例患者和173例对照纳入分析,发现TT基因型（OR：1.965,95％CI：1.100～3.511,P=0.022）和T等位基因（OR：1.364,95％CI：1.009～1.845,P=0.044）增加了IS的发病风险.结论 MTHFR基因C677T多态性与四川东北人群IS发病密切相关.

Objective To investigate the role of the methylenetetrahydrofolate reductase （MTHFR） C677T gene variants in patients with ischemic stroke （IS） in population in North-east Sichuan.Methods This case-control study including 180 cases affected by atherothrombotic subtype stroke and 173 controls matched for age,sex,and same area was conducted in Nanchong,Sichuan.Allele and genotype frequency were characterized by using PCR followed by HinfI enzymatic digestion.Three genetic comparison model （Dominant,Recessive and allelic） were employed for analyzing the relationship between MTHFR gene and IS.Results We found a statistic association of T allele carriers genetic factors with IS （TT genotype：OR：1.965,95%CI：1.100-3.511,P=0.022; T allele：OR：1.364,95%CI：1.009-1.845,P=0.044）.The results showed a significant association of T allele carriers genetic factors with atherothrombotic subtype stroke; Conclusions We suggested that MTHFR C677T variant may be a determinant of atherothrombotic IS in Northeast Sichuan.