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目的 研究亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与 2型糖尿病肾病的关系。方法 运用聚合酶链反应 限制性片段长度多态性技术 (PCR RFLP)检测 85例 2型糖尿病患者 (其中 39例伴糖尿病肾病 )及 5 7例正常对照组MTHFRC6 77T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 糖尿病肾病组MTHFR基因TT纯合基因型、CT杂合基因型及T等位基因频率 (分别为 2 8 2 1%、5 1 2 8%、5 3 85 % )均明显高于糖尿病不伴肾病组 (分别为 19 5 7%、2 8 2 6 %、33 70 % )及正常对照组 (分别为 17 5 4%、2 8 0 7%、31 5 8% ) ,基因型和等位基因频率分布差异均有统计学意义 (P<0 0 5 ) ,而MTHFR基因该多态性在不伴肾病组与正常对照组之间差异无显著性 (P >0 0 5 ) ,T等位基因与糖尿病肾病的发生密切相关 (OR =2 30 ,95 %可信区间 :1 2 4～ 4 2 6 )。糖尿病肾病组、糖尿病不伴肾病组及正常对照组中 ,MTHFR基因有C6 77T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C6 77T位碱基突变致血浆同型半胱氨酸水平升高是糖尿病肾病发病的重要遗传因素
Objective To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and type 2 diabetic nephropathy. Methods The genotypes of MTHFRC6 77T in 85 type 2 diabetic patients (39 with diabetic nephropathy) and 57 normal controls were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). The genotypes of MTHFRC6 77T were determined by high performance liquid chromatography Determination of plasma homocysteine levels. Results The TT genotype, CT heterozygous genotype and T allele frequency of MTHFR gene in diabetic nephropathy group (2 821%, 5 1 2 8%, 5 3 85% respectively) were significantly higher than those without diabetes Nephropathy group (19.57%, 28.26%, 33.0%, respectively) and normal control group (17.54%, 28.07%, 31.58% respectively), genotype and allele (P <0.05), while there was no significant difference between MTHFR gene polymorphism and non-nephropathy group (P> 0.05), T allele It is closely related to the occurrence of diabetic nephropathy (OR = 230, 95% confidence interval: 124-426). In diabetic nephropathy group, diabetic nephropathy group and normal control group, plasma homocysteine levels in patients with MTHFR gene C677T mutation were significantly higher than those without gene mutation. Conclusion MTHFR C677T base mutation caused by plasma homocysteine levels is an important genetic factor in the pathogenesis of diabetic nephropathy