DOI: 10.2337/dc06-1399 © 2007 by the American Diabetes Association
Functional Vascular Endothelial Growth Factor 634G>C SNP Is Associated With Proliferative Diabetic RetinopathyA case-control study in a Brazilian population of European ancestry
1 Human Genome Center, Department of Genetics and Evolutive Biology, University of São Paulo, São Paulo, Brazil Address correspondence and reprint requests to to Maria Rita Passos-Bueno, Rua do Matão, 277, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil, CEP 05508-900. E-mail: passos{at}ib.usp.br OBJECTIVEThe purpose of this study was to evaluate the effect of the single nucleotide polymorphism (SNP) 634G>C at the 5' regulatory region of the vascular endothelial growth factor (VEGF) in the risk of proliferative diabetic retinopathy (PDR) in the Brazilian population of European ancestry with type 2 diabetes. RESEARCH DESIGN AND METHODSA case-control study was conducted in 501 type 2 diabetic patients of European ancestry. Patients underwent a standardized clinical, ophthalmological, and laboratory evaluation. Of these, 167 patients had PDR (case patients), and 334 were considered as control subjects (patients without PDR) for PDR. A reference population (110 individuals of European ancestry) was also evaluated. RESULTSNo evidence of association between 634G>C/VEGF and the presence of diabetic retinopathy or type 2 diabetes was observed (P > 0.05). However, CC homozygous for the SNP 634G>C was significantly more frequent in patients with PDR (37 of 167; 22.2%) than in the corresponding control group (40 of 334; 12%) in accordance with a recessive model (P = 0.003). This effect was further observed when creatinine, BMI, sex, duration of type 2 diabetes, HDL cholesterol, and systolic blood pressure were taken into account (odds ratio 1.9 [95% CI 1.013.79], P = 0.04). CONCLUSIONSThe presence of the allele 634C/VEGF in homozygosity is an independent risk factor for the development of PDR in type 2 diabetic patients of European ancestry.
Abbreviations: AAO, American Academy of Ophthalmology NPDR, nonproliferative diabetic retinopathy PDR, proliferative diabetic retinopathy SNP, single nucleotide polymorphism VEGF, vascular endothelial growth factor
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