Genotypic Analysis Of Treatment Response To Anti-vegf Therapy In Age-related Macular Degeneration

Abstract

Purpose: : To investigate whether genotype can help predict an individual’s response rate to anti-VEGF therapy in the setting of exudative age-related macular degeneration (AMD).

Methods: : A retrospective chart review was performed on 264 patients treated with anti-VEGF for exudative AMD. Five single nucleotide polymorphisms (SNPs) - rs2274700 and rs1061170 in CFH, rs17611 in C5, rs2230199 in C3 and rs9332739 in C2 - were genotyped using the SNaPshot method. Visual acuity and spectral domain optical coherence tomography (SD-OCT) were used to determine clinical response. The patients were considered non-responders to anti-VEGF therapy if their visual acuity did not improve by 1 ETDRS line or if their foveal thickness did not decrease as a result of therapy. Chi-squared tests were used for analysis of genetic data.

Results: : We reviewed the data of 264 patients treated with anti-VEGF for exudative AMD. Of these, 112 patients were found to be responders to anti-VEGF and 152 patients were considered non-responders. There was no statistically significant correlation with responsiveness to anti-VEGF therapy and the presence of at risk or protective AMD alleles in the genetic variants tested.

Conclusions: : Candidate risk or protective alleles for AMD were not associated with treatment response. Further studies on more candidate genes and a genome wide study will aid identification of the genetic underpinnings in anti-VEGF response and maximize patient benefit through personalized medicine.

Keywords: age-related macular degeneration • genetics • vascular endothelial growth factor