血清同型半胱氨酸水平、亚甲基四氢叶酸还原酶基因多态性与糖尿病肾病相关性研究  

Association of homocysteine,methyleneterahydrofolate reductase gene polymorphismwith nephropathy in type 2 diabetes mellitus

作　　者：曹宏[1] 黄德芳[1] 毛莉[1] 高玉芬[1] 

机构地区：[1]无锡市第三人民医院内分泌科,江苏无锡214041

出　　处：《南京医科大学学报（自然科学版）》2005年第4期249-251,共3页Journal of Nanjing Medical University(Natural Sciences)

摘　　要：目的:探讨血清同型半胱氨酸水平、亚甲基四氢叶酸还原酶(MTHFR)基因的分布情况与2型糖尿病肾病(DN)的关系。方法:利用聚合酶链反应和限制性片断长度多态性(PCR鄄RELP)方法检测了47名健康对照组和40名2型糖尿病肾病患者MTHFR基因的677碱基多态性突变C→T情况,同时测定其血清同型半胱氨酸(Hcy)水平和叶酸水平,并加以对照分析。结果:2型糖尿病肾病患者MTHFR基因突变型C677T基因的频率明显高于对照组,差异极显著(P<0.05),且Hcy水平明显高。在叶酸浓度≤6.92nmol/L时,DN组TT型发生频率及T等位基因频率明显高于对照组(P<0.05);但当叶酸浓度>6.92nmol/L时,DN组TT型发生频率及T等位基因频率与对照组无差异(P>0.05)。结论:MTHFR基因C677T位碱基突变导致血浆同型半胱氨酸水平升高是糖尿病肾病发病的重要危险因素。Objective:To evaluate the role of serum homocysteine levels,methyleneterahydrofolate reductase(MTHFR) genepolymorphisms in Chinese patients with type 2 diabetes mellitus and diabetic nephropathy(DN). Methods:By PCR-RFLP,MTHFR C677T mutation was detected in 40 type 2 diabetes mellitus with diabetic nephropathy and 47 healthy persons as control. The serum homocysteine(Hcy) levels and serum folate levels were measured. Results:The frequency of MTHFR C677T gene was signiticantly higher in type 2 diabetes mellitus with diabetic nephropathy than normal controls(P ≤ 0.05), and the serum Hcy levels were higher than the control group. In subject with serum folate ≤ 6.92 nmol/L,the frequency genotype TT and allele frequency T of DN was higher than that of the control group(P < 0.05); Among subject with serum folate > 6.92 nmol/L genotype and allele distribution was no different with the control group(P > 0.05). Conclusion:MTHFR gene C677T mutation associated with a predisposition to increased serum homoysteine levels may represent a genetic risk factor for DN.

关 键 词：亚甲基四氢叶酸还原酶基因 同型半胱氨酸 糖尿病肾病 

分 类 号：R587.1[医药卫生—内分泌]