亚甲基四氢叶酸还原酶基因多态性及血清同型半胱氨酸水平与冠心病的相关性研究

Study on the relationship between gene polymorphism of methylenyltetrahydrofolate reductase with hyperhomocysteinemia( Hcy) and coronary heart disease

目的分析亚甲基四氢叶酸还原酶C677T基因多态性及血清同型半胱氨酸水平与冠心病的相关性。方法选择78例经冠状动脉造影确诊为冠心病患者（冠心病组）和76例冠状动脉造影正常住院患者（对照组）为研究对象,检测血脂、同型半胱酸（Hcy）水平,采用聚合酶链反应-限制性内切酶法测定MTHFR C677T基因型。结果冠心病组Hcy浓度明显高于对照组（16.21±6.42 vs.12.68±5.64）μmol/L;冠心病组与对照组CC、CT、TT基因型比较差异有统计学意义（χ2=3.404,P〈0.05）;TT基因可增加冠心病危险性,差异无显著性（Or=0.014,95%CI：0.12~0.35）;冠心病组CC、CT、TT基因型血浆Hcy浓度均明显高于对照组（11.65±1.29 vs.10.58±1.18、15.68±1.18 vs.14.32±1.37、24.02±1.32 vs.16.85±3.28）μmol/L;两组均表现出TT基因型血浆Hcy浓度显著高于CC、CT基因型血浆Hcy浓度。结论 MTHFR基因突变与Hcy含量相关,TT纯合因子血浆Hcy水平最高,可能是诱发冠心病的独立危险因素。

Objective To analyze the relationship between gene polymorphism ofmethylenyltetrahydrofolate redutase（ MTHFR） with hyperhomocysteinemia（ Hcy） and coronary heart disease（ CHD）. Methods A total of 78 patients with CHD confirmed by coronary angiography（ CHD group） and 76 hospitalized patients with normal coronary angiography（ control group） were allocated in this study,blood levels of Hcy and lipidswere detected,and PCR- PFLC had been used for determination of MTHFR C677 T genotype. Results The concentration of Hcy in CHD group was significantly higher than that of control group（ 16. 21 ± 6. 42 vs. 12. 68 ± 5. 64 μmol / L）; there was statistically difference in gene types of CC,CT and TT between CHD group and control group（ χ2= 3. 404,P〈0. 05）. It may increase the risk of CHD with gene type TT,but the difference was not significant（ Or = 0. 014,95% CI： 0. 12 ~ 0. 35）; plasma level of Hcy in CHD group with CC,CT and TT gene types wassignificantly higher than that of control group（ 11. 65 ± 1. 29 vs. 10. 58 ± 1. 18,15. 68 ± 1. 18 vs. 14. 32 ± 1. 37,24. 02 ± 1. 32 vs. 16. 85 ± 3. 28μmol / L）; plasma level of Hcy in two groups with genotype TT was significantly higher than that of plasma level of Hcy with genotypes CC and CT.Conclusion The mutation of MTHFR gene is correlated withplasma level of Hcy,plasma level of Hcy in TT homozygous factor is highest,thus it may be the independent risk factor for inducing CHD.