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目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸水平与2型糖尿病患者合并冠心病的关系。方法:运用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测228例2型糖尿病患者(其中126例伴冠心病)及114例正常对照组MTHFRC677T基因型,采用高效液相色谱法测定血浆同型半胱氨酸水平。结果:在114例正常对照组中突变T等位基因频率为38.0%,与中国香港地区人群T等位基因频率(33.0%)相似。糖尿病组MTHFR基因型频率分布与正常对照组相比差异无统计学意义(χ2=3.67,P>0.05)。糖尿病伴冠心病组MTHFRT等位基因频率(45.2%)明显高于糖尿病不伴冠心病组(30.4%),基因型和等位基因频率分布差异均有统计学意义(分别为χ2=11.98,P<0.01;χ2=8.72,P<0.01),T等位基因与糖尿病并发冠心病密切相关(OR=1.89,95%CI:1.24-2.88))。糖尿病伴冠心病组、糖尿病不伴冠心病组及正常对照组中,MTH-FR基因有C677T突变者血浆同型半胱氨酸水平均显著高于无基因突变者。结论:MTHFR基因C677T位碱基突变致血浆同型半胱氨酸水平升高可能是糖尿病并发冠心病的重要遗传因素。
AIM: To investigate the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and plasma homocysteine level with type 2 diabetes mellitus complicated with coronary heart disease. Methods: MTHFRC677T genotypes of 228 patients with type 2 diabetes (126 with coronary heart disease) and 114 normal controls were detected by PCR-RFLP. Determination of Plasma Homocysteine by Liquid Chromatography. RESULTS: The frequency of the mutant T allele in the 114 normal controls was 38.0%, similar to the T allele frequency (33.0%) in Hong Kong, China. The frequencies of MTHFR genotypes in diabetic group were not significantly different from those in normal controls (χ2 = 3.67, P> 0.05). The frequency of MTHFRT allele (45.2%) in patients with diabetes mellitus and coronary heart disease was significantly higher than that in patients without diabetes (30.4%). The frequencies of genotypes and alleles were all significantly different (χ2 = 11.98, P <0.01; χ2 = 8.72, P <0.01). There was a close correlation between T allele and diabetes with coronary heart disease (OR = 1.89, 95% CI: 1.24-2.88). In patients with diabetes mellitus with coronary heart disease, diabetes without coronary heart disease and normal control group, plasma homocysteine levels in patients with MTH-FR gene C677T mutation were significantly higher than those without gene mutation. CONCLUSION: Elevated plasma homocysteine level caused by mutation of MTHFR gene C677T base may be an important genetic factor of diabetes complicated with coronary heart disease.