早发冠心病患者甲烯四氢叶酸还原酶基因的C677T多态性研究

目的探讨同型半胱氨酸代谢过程的关键酶之一——甲烯四氢叶酸还原酶（ＭＴＨＦＲ）基因Ｃ６７７Ｔ多态性与早发冠心病发病的关系。方法采用限制性内切酶片段长度多态性方法检测患者的ＭＴＨＦＲ基因Ｃ６７７Ｔ位碱基突变。结果６７例患者中Ｔ纯合基因型占３４．３％（２３／６７）、杂合基因型占４３．３％（２９／６７）,Ｃ纯合基因型占２２．４％（１５／６７）;Ｔ等位基因频率为５５．９％（７５／１３４）,Ｃ等位基因频率为４４．１％（５９／１３４）;与正常对照组比较,差异均有显著性意义（Ｐ＜０．０５）。结论ＭＴＨＦＲ基因Ｃ６７７Ｔ点突变可能是中国人早发冠心病发病的危险因素之一。

C677T genetic polymorphism of methylenetetrahydrofolate reductase in premature coronary heart disease

OBJECTIVE: Methylenetetrahydrofolate reductase (MTHFR) is an important factor responsible for hyperhomocysteinemia. The relation of MTHFR gene C677T polymorphism and premature coronary heart disease was studied. METHODS: MTHFR C677T genetic polymorphisms in 67 patients with premature coronary heart disease were detected by PCR-RFLP technique. RESULTS: In case group, the frequency of T homogenic type was 34.3% (23/67), heterogenic type 43.3% (29/67) and C homogenic type 22.4% (15/67). T allele frequency was 55.9% (75/134) while C allele frequency 44.1% (59/134) in case group. There were significant differences in MTHFR genotype and allele frequencies between cases and controls (chi 2 = 6.82 and 5.41 respectively, P < 0.05). CONCLUSIONS: It was suggested that MTHFR gene C677T mutation was a possible risk factor of Chinese premature coronary heart disease.