湖南地区冠心病患者MTHFR C677T基因多态性与血浆同型半胱氨酸及血脂水平关系的研究

Relationship study between MTHFR C677T polymorphism,plasma homocysteine and blood lipid levels in patients with coronary heart disease in Hunan province

目的分析湖南地区中老年冠心病患者亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与血浆同型半胱氨酸(Hcy)及血脂水平的相关性,为该地区研究冠心病病因、发病机制及诊断提供参考。方法以该院351例初诊为冠心病的患者为研究对象,并设置健康对照组147例,分别检测各组血浆Hcy及血脂水平,并采用PCR-金磁微粒层析法测定MTHFR C677T基因型,统计分析冠心病患者MTHFR C677T基因型及各基因型与血浆Hcy及血脂水平的相关性。结果冠心病组的血浆Hcy水平,MTHFR C677T基因CC、CT、TT三种基因型频率和C、T两种等位基因频率与健康对照组相比,差异有统计学意义(P<0.05);冠心病组TT型、CT型血浆Hcy水平高于CC型,健康对照组的TT型血浆Hcy水平明显高于CT、CC型,差异有统计学意义(P<0.05)。结论 MTHFR C677T基因多态性是冠心病发病的危险因素,与血浆Hcy水平密切相关,TT型纯合突变和T等位基因使Hcy水平显著升高,而血脂水平与MTHFR C677T基因多态性无明显相关性。因此,血浆Hcy水平及MTHFR C677T多态性可以作为该地区研究冠心病病因、发病机制及其遗传机制的重要参考指标。

Objective To study etiology the association between methylenetetrahydrofolate reductase （MTHFR） C677T gene polymorphism,plasma homocysteine and blood lipid levels in middle aged and elderly patients with coronary heart disease in Hunan province and to analyzed the correlation between the etiology, pathogenesis of coronary heart disease and provide a reference. Methods Totally 351 patients with newly di agnosed coronary heart disease in our hospital were enrolled in this study, and 147 healthy people were ran domly divided into two groups as control. The levels of plasma Hcy and blood lipid were measured and the genotype of MTHFR C677T was determined by PCR gold magnetic particle chromatography. The genotype of MTHFR C677T and the correlation between genotype,plasma homocysteine and serum lipid levels in patients with coronary heart disease were analyzed. Results There were significant differences in the plasma Hcy level between the coronary heart disease group and the frequencies of CC,CT and TT genotypes of MTHFR C677T gene and the frequency of C and T alleles compared with the control group （P〈0.05）. The level of plasma Hcy in the healthy control group was significantly higher than that in the CT type and CC type （P〈0.05）. Conclusion MTHFR C677T gene polymorphism is a risk factor for the morbidity of coronary heart disease. It is closely related to plasma Hcy level. TT homozygous mutation and T allele increase the level of Hcy, but the level of serum and MTHFR C677T gene polymorphism have no significant correlation.