MTHFR C677T基因多态性与缺血性脑血管病的相关性

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与缺血性脑血管病的相关性。方法:运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对512例缺血性脑血管病患者和500例健康对照者进行MTHFR C677T基因多态性分析。结果:缺血性脑血管病患者中突变纯合子TT基因型频率为40%,突变杂合子CT基因型频率42·6%,野生型CC基因型频率为17·4%;对照组中TT基因型频率为32·8%,CT基因型频率为34·6%,CC基因型频率为32·6%;患者组和对照组T等位基因频率分别为61·3%和51·1%,C等位基因频率分别为38·7%和49·9%,以上各频率之间均有显著性差异(P<0·05)。结论:MTHFR C677T基因多态性与缺血性脑血管病的发生有一定关系,可能是缺血性脑血管病的一个重要危险因素。

The Correlation Between Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Ischemic Cerebrovascular Diseases

Objective: To explore the correlation between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms and ischemic cerebrovascular diseases. Methods: Five hundred and twelve patients with ischemic cerebrovascular diseases (patient group) and 500 healthy subjects (control group) were recruited in the study, and their MTHFR gene polymorphisms were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequencies of homozygous mutant TT-type were 40%; the frequencies of heterozygous mutant CT-type were 42.6%; and the frequencies of wild mutant CC-type were 17.4% in patients with ischemic cerebrovascular diseases. The frequencies of TT-type, CT-type, and CC-type were 32.8%, 34.6%, and 32.6%, respectively in the control group. The frequencies of T alleles in the patient group and the control group were 61.3% and 51.1%, respectively, and there were significant differences between the above frequencies (P<0.05). Conclusion: There are some relationships between MTHFR C677T gene polymorphisms and the ischemic cerebrovascular diseases, and they may be an important risk factor for ischemic cerebrovascular diseases.