缺血性中风血瘀证患者MTHFR基因多态性研究

Study on MTHFR C677T Polymorphism in Ischemic Stroke with Blood Stasis Syndrome

目的探讨N5,N10亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与缺血性中风病血瘀证易感性的关系。方法收集缺血性中风病血瘀证患者84例(病例组),缺血性中风病非血瘀证患者143例(对照组),抽外周静脉血提取DNA,采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)检测MTHFR基因C677T多态性类型。结果2组MTHFR基因C677T基因型频率分布差异有统计学意义(χ2=12.618;d.f.=2,P=0.002),突变型等位基因频率病例组高于对照组(分别为39.29%和24.48%),TT基因型与缺血性中风血瘀证发生显著相关(OR=3.730;95%CI为1.229～11.318;P=0.014)。结论MTHFR基因TT型可能是缺血性中风病血瘀证发病的易感危险因素之一。

Objective To explore the relationship between the C677T single nucleotide polymorphism of Ns, N10-methylenetetrahydrofolate reductase （MTHFR） and blood stasis syndrome （BSS） of ischemic stroke （IS）. Methods The MTHFR C677T genotypes in 84 patients of IS of BSS type （BSS-IS group）, 143 patients of IS of non-BSS type （non-BSS-IS group） were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） assay. Results The constituent ratio of MTHFR CC, CT and TT genotype was significantly different between two groups （ χ^2=12.618; d.f. =2, P=0.002）. The frequencies ofT allele in patients with BSS-IS （39.29%） were higher than that of non-BSS-IS group （24.48%）. The MTHFR TT genotype was associated with a 3.730-fold increased risk for BSS-IS （OR=3.730; 95%CI, 1.229-11.318; P=0.014）. Conclusion The MTHFR TT genotype may be one of the risk factors associated with the susceptivity to BSS-IS.