dos Santos Kátia Gonçalves, Canani Luís Henrique, Gross Jorge Luiz, Tschiedel Balduíno, Souto Kátia Elisabete Pires, Roisenberg Israel
Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Mol Genet Metab. 2006 Jul;88(3):280-4. doi: 10.1016/j.ymgme.2006.02.002. Epub 2006 Mar 20.
Diabetic retinopathy is a sight-threatening chronic complication of diabetes mellitus and is the leading cause of acquired blindness in adults. The -106C>T polymorphism in the promoter region of the aldose reductase (AR) gene has been shown to be associated with the susceptibility to diabetic nephropathy in type 2 diabetes, but the findings regarding the occurrence of diabetic retinopathy are conflicting. In this case-control study, we investigated whether the -106C>T polymorphism in the AR gene is involved in the development and progression of diabetic retinopathy in 579 Brazilians with type 2 diabetes (424 Caucasian- and 155 African-Brazilians). Patients underwent a clinical and laboratory evaluation consisting of a questionnaire, physical examination, assessment of diabetic complications and laboratory tests. Genotype analysis was performed using the polymerase chain reaction followed by digestion with restriction enzyme. Logistic regression analysis was used to control for independent risk factors associated with diabetic retinopathy. There were no differences in either genotype or allele frequencies for the -106C>T polymorphism between type 2 diabetic patients with or without diabetic retinopathy, in both ethnic groups. However, the CC genotype was associated with an increased risk of having proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes (odds ratio (OR)=2.04; 95% confidence interval (CI)=1.21-3.45; P=0.007), independently of other risk factors associated with this complication. Thus, our results show that the -106CC genotype (-106C>T polymorphism) in the AR gene is related to the progression of diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes.
糖尿病视网膜病变是糖尿病一种威胁视力的慢性并发症，是成年人后天失明的主要原因。醛糖还原酶（AR）基因启动子区域的-106C>T多态性已被证明与2型糖尿病患者患糖尿病肾病的易感性有关，但关于糖尿病视网膜病变发生情况的研究结果相互矛盾。在这项病例对照研究中，我们调查了AR基因的-106C>T多态性是否参与了579名巴西2型糖尿病患者（424名白种人和155名非洲裔巴西人）糖尿病视网膜病变的发生和发展。患者接受了临床和实验室评估，包括问卷调查、体格检查、糖尿病并发症评估和实验室检查。采用聚合酶链反应后用限制性酶消化进行基因型分析。采用逻辑回归分析来控制与糖尿病视网膜病变相关的独立危险因素。在两个种族组中，患有或未患有糖尿病视网膜病变的2型糖尿病患者之间，-106C>T多态性的基因型或等位基因频率均无差异。然而，在患有2型糖尿病的巴西白种人中，CC基因型与增殖性糖尿病视网膜病变风险增加相关（优势比（OR）=2.04；95%置信区间（CI）=1.21-3.45；P=0.007），独立于与该并发症相关的其他危险因素。因此，我们的结果表明，AR基因中的-106CC基因型（-106C>T多态性）与患有2型糖尿病的巴西白种人糖尿病视网膜病变的进展有关。
