The −106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes

• Published in: Molecular genetics and metabolism Vol. 88; no. 3; pp. 280 - 284
• Main Authors: dos Santos, Kátia Gonçalves, Canani, Luís Henrique, Gross, Jorge Luiz, Tschiedel, Balduíno, Souto, Kátia Elisabete Pires, Roisenberg, Israel
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2006
• Subjects: African Continental Ancestry Group; Aged; Aldehyde Reductase - genetics; Aldose reductase; Brazil; Brazilians; Case-Control Studies; Diabetes Mellitus, Type 2 - complications; Diabetes Mellitus, Type 2 - genetics; Diabetic retinopathy; Diabetic Retinopathy - etiology; Diabetic Retinopathy - genetics; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Polymorphism; Polymorphism, Genetic; Promoter Regions, Genetic - genetics; Risk; Type 2 diabetes; Brazil; Type 2 diabetes; Diabetic retinopathy; Brazilians; Aldose reductase; Polymorphism
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2006.02.002

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.