Single Nucleotide Polymorphism and Serum Levels of VEGFR2 are Associated With Age Related Macular Degeneration

Neel      Kamal Sharma; Amod      Gupta; Sudesh      Prabhakar; Ramandeep      Singh; Suresh      Sharma; Akshay      Anand

doi:10.2174/156720212803530681

Abstract

Age-related macular degeneration (AMD) is a leading cause of blindness and is the third leading cause of blindness. Genetic factors are known to influence an individual’s risk for developing AMD. Linkage has earlier been shown to the vascular endothelial growth factor 2 (VEGF2) gene and AMD. To examine the role of VEGFR2 in north Indian population, we conducted a case control study. Total 176 subjects were enrolled in a case-control genetic study. Real-Time PCR was used to analyze the SNPs (rs1531289 and rs2305948) of VEGFR-2 gene. ELISA was conducted to determine the levels of VEGFR2. A non-parametric Mann-Whitney-U test was applied for comparison of the ELISA levels and pearson’s Chi-square test was applied to study the association of polymorphism between various groups. The single SNP (rs1531289) AG genotype was significantly associated with AMD (OR= 2.13, 95%CI= 1.011-4.489, P=0.047). VEGFR2 levels were found to be increased significantly in AMD patients as compared to normal controls. We also found significant increase in the levels of wet AMD as compared to dry AMD. This study demonstrates higher levels of VEGFR2 and frequency of AG (rs1531289) genotype in AMD patient population, suggesting the role of VEGFR-2 in pathogenesis of AMD.

Keywords: Angiogenesis, genotype, macular degeneration, single-neucleotide polymorphism, VEGFR2, AMD, RPE, polymorphisms, retinal pigmented epithelium (RPE), CNV