Diabetic retinopathy progression associated with haplotypes of two VEGFA SNPs rs2010963 and rs699947

Abstract

ABSTRACT Diabetes-related retinopathy (DR) is one of the sight-threatening diseases. The present case–control study screened 134 patients with type 2 diabetes and 36 healthy ones without diabetes. The genotyping of SNPs rs2010963 and rs699947 of the VEGF gene were done by tetra primers ARMS-PCR. The mutant GG genotype of rs2010963 was significantly associated with DR (OR = 10.29; 95% CI = 2.20–59.06; p = 0.004). No significant associations existed between patients with DR and those with NDR or controls in the genotype or allele frequencies of rs699947 polymorphism. The haplotype analysis for rs2010963 and rs699947 shows the CG haplotype was significantly different between DR and NDR OR 2.0 (95% CI:1.02–3.93), p = 0.043. and between DR and control OR 2.42 (95% CI: 1.2–4.65), p = 0.0108‎. The two SNPs showed moderate Linkage disequilibrium (LD) ‎between DR and control, D’ = 0.64 also, moderate LD between DR cases and NDR, D’ = 0.75. No significant importance for rs699947 SNP with diabetic retinopathy. The 2010963 SNP in the VEGF gene is associated with the risk of NPDR and PDR. The findings also suggest a moderate LD in the two SNPs and their CG haplotype associated with DR progression.