同型半胱氨酸及其代谢酶MTHFR C677T基因多态性与广西壮族自治区玉林地区汉族冠心病患者的相关性

Correlation between homocysteine and its metabolic enzyme MTHFR C677T gene polymorphism and coronary heart disease in Han population in Yulin area of Guangxi Zhuang Autonomous Region

目的探讨血浆同型半胱氨酸(Hcy)及其代谢酶N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与广西壮族自治区玉林地区汉族冠心病的关系。方法纳入300例汉族人,经冠状动脉造影确诊的冠心病(CHD)组150例,非冠心病组作为对照组150例,抽取外周静脉血提取DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法检测2组MTHFR C677T基因型,同时用全自动生化分析仪检测Hcy及其他生化指标。结果 2组Hcy水平比较差异有统计学意义(P<0.05)。CC、CT、TT 3种基因型频率表达在CHD组和对照组中分别为18.7%、47.3%、34.0%和37.3%、42.0%、20.7%;CHD组中C和T等位基因为42.3%和57.7%,对照组中为58.3%和41.7%。2组3种基因型总体分布频率及等位基因频率分布差异均有统计学意义(P<0.05)。Hcy在CHD组中TT型高于CC型及CT型(P<0.05)。Logistic回归显示,年龄、血压、血脂水平可能为冠心病发病的危险因素。结论 Hcy升高及其代谢酶(MTHFR)C677T基因多态性可能与玉林地区汉族冠心病的发生有关。

Objective To investigate the correlation between plasma homocysteine（Hcy） and its metabolic enzyme methylenetetrahydrofolate reductase（MTHFR） C677 T gene polymorphism and coronary heart disease（CHD） in Han population in Yulin area of Guangxi zhuang Autonomous Region. Methods A total of 300 Han Chinese in Yulin area were included in the study, and divided into the CHD group and the non-CHD group, the control group by coronary angiography（n=150 each）. The peripheral blood was collected to extract DNA. The MTHFR C677 T genotype in two groups was determined by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Meanwhile, the Hcy level and other biochemical indicators were examined by automatic biochemical analyzer. Results There was statistical significance in the Hcy level between the two groups（P〈0.05）. The frequency of the three genotypes CC, CT and TT expression in the CHD group and the control group were 18.7%, 47.3%, 34.0% and 37.3%,42.0%, 20.7%, respectively. The frequency of C and T allele expression was 42.3% and 57.7% in the CHD group,and 58.3% and 41.7% in the control group. The overall distribution frequency and allele frequency of the three geno-types in the two groups were statistically significant（P〈0.05）. In the CHD group, the Hcy of TT genotype was higher than that of CC and CT genotypes（P〈0.05）. Logistic regression showed that age, blood pressure, and lipid level may be risk factors for CHD. Conclusion The elevated Hcy level and its metabolic enzyme MTHFR C677 T gene polymorphism may be associated with the occurrence of CHD in Han population in Yulin of Guangxi zhuang Autonomous Region.