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视网膜病变的相关性研究  

The Relationship of Homocysteine, Methylenetetrahydrofolate Reductase Gene Polymorphism and Diabetic Retinopathy

作　　者：黄德芳[1] 曹宏[1] 毛莉[1] 高玉芬[1] 

机构地区：[1]江苏省无锡市第三人民医院内分泌科,214041

出　　处：《中国微循环》2005年第4期229-231,共3页Journal of Chinese Microcirculation

摘　　要：目的探讨血清同型半胱氨酸(Hcy)水平、亚甲基四氢叶酸还原酶(MTHFR)基因的分布情况与糖尿病视网膜病变(DR)的关系。方法应用聚合酶链反应和限制性片断长度多态性(PCRRELP)方法检测47例健康对照组和50例糖尿病视网膜病变患者MTHFR基因的677碱基多态性突变C→T情况,同时测定其血清Hcy水平和叶酸水平,进行对照分析。结果糖尿病视网膜病变患者MTHFR基因突变型C677T基因的频率明显高于对照组,差异有显著性(P<0.05),且Hcy水平明显增高。在叶酸浓度≤6.92nmol/L时,DR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,DR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Hcy水平升高是糖尿病视网膜病变发病的重要危险因素,但受叶酸浓度的影响。Objective To evaluate the role of serum homocysteine levels, methylenetetrahydrofolate reductase （MTHFR） gene polymorphisms in patients with type 2 diabetes mellitus and diabetic retinopathy （DR）. Methods By PCR-RFLP, MTHFR C677T mutation was detected in 50 cases type 2 diabetes mellitus with diabetic retinopathy 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 significantly higher in type 2 diabetes meUitus with diabetic retinopathy than those in normal controls（ P≤0.05）, and the serum Hey level was higher than that in control group. In subject with serum folate≤6.92 nmol/L, the frequency genotype TT and allele frequency T of DR was higher than that of control group（P 〈 0. 05）. Among subject with serum folate 〉6.92 nmol/L genotype and allele distribution was not different from the control group（ P 〉 0. 05）. Conclusion MTHFR gene C677T mutation associated with a predisposition to increased serum homocysteine levels may represent a genetic risk factor for DR.

关 键 词：亚甲基四氢叶酸还原酶基因 同型半胱氨酸 糖尿病视网膜病变 

分 类 号：R587.2[医药卫生—内分泌]