Association of VEGF-A polymorphisms with response to anti-VEGF treatment in Age-related Macular Degeneration

Abstract

Introduction: Age-related macular degeneration (AMD) is the leading cause of blindness in people over the age of 65. Recently, studies found the polymorphisms in different genes have been proposed as factors that increase the disease susceptibility. Aim: Therefore, we investigated the associations between the five common vascular endothelial growth factor (VEGF) polymorphisms (rs833061, rs1413711, rs2010963, rs144854329 and rs2146323 ) and AMD with its therapeutic results. Materials and Methods: In this study, we enrolled 161 people with AMD and 116 controls. We used allele specific polymerase chain reaction and restriction fragment length polymorphism methods. Statistical analysis was performed using SNPalyze and STATA 13.0 software. Results: We did not find statistically significant differences in allele and genotype frequencies of the five polymorphisms of VEGF-A gene between patients and controls. However, the haplotype analysis of five polymorphisms of VEGF-A gene were compared within groups suggest that C-C-C-Ins-C haplotype (OR=0.10, 95% CI, 0.005-1.98, p=0.041) had protective effect on AMD. Conclusion: According to the results, C-C-C-Ins-C haplotype had protective effect on AMD. Also, people with G/G genotype of rs2010963 polymorphism are more effective in treatment than people with other genotypes.