亚甲基四氢叶酸还原酶基因多态性及同型半胱氨酸水平与冠心病关系的研究

目的：探讨亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性、血清同型半胱氨酸（Hcy）水平与冠心病发生的关系。方法：收集解放军总医院第一附属医院收治的冠心病患者172例和健康体检者（正常对照组）160例的空腹静脉血,应用基因芯片技术联合检测MTHFR基因C677T多态性位点,并比较冠心病患者和健康体检者的MTHFR基因型及不同MTHFR基因型冠心病患者中血清Hcy水平的变化。结果：①冠心病组与正常对照组MTHFR基因C677T分布频率分别为CC型20.3%比32.5%（P〈0.05）、CT型44.8%比43.1%（P〉0.05）和TT型34.9%比24.3%（P〈0.05）;②冠心病组血清Hcy水平与正常对照组水平之间存在明显差异（P〈0.05）;③冠心病的TT基因型组的Hcy水平明显高于CC基因型组和CT基因型组,差异具有统计学意义（P〈0.05）。结论：冠心病组MTHFR C677T基因TT型分布频率及Hcy水平均高于正常对照组,MFHFR基因C677T TT型与冠心病的发生有关。

Study on relationship of methylenterahydro-folate reductase gene polymorphism and homocysteine in patients with cor-onary heart disease

Objective：To investigate the correlation between methylenterahydro-folate reductase（MTHFR） gene C677 T polymorphism,homocysteine（Hcy） and coronary heart disease.Methods：Fasting blood was obtained from172 patients with coronary heart disease and 160 healthy controls to detect the gene polymorphism of MTHFR C677 T by gene chip technology.MTHFR genotype was compared between patients with coronary heart disease and healthy controls,and the level of serum Hcy was also compared among the coronary heart disease patients of different MTHFR genotypes.Results：①In coronary heart disease and control groups,the frequencies of MTHFR C677 T genotype were CC20.3%vs 32.5%（P〈0.05）,CT 44.8%vs 43.1%（P〈0.05）,and TT 34.9%vs 24.3%（P〈0.05）.②In coronary heart disease group,the serum Hcy level was higher than that of the control group（P〈0.05）.③In coronary heart disease group,the serum Hcy concentration of individuals with TT genotype was higher than that of individuals with CC and CT genotype（P〈0.05）.Conclusions：The frequency of TT genotype of MTHFR C677 T and levels of Hcy in patients with coronary heart disease are higher than the healthy controls,indicating that the polymorphism of MTHFR C677 T and serum Hcy levels are related to coronary heart disease.