Genetic Risk Evaluation in Wet Age-Related Macular Degeneration Treatment Response

Abstract

<b><i>Objective:</i></b> To evaluate the pharmacogenetic relationship between <i>CFH</i> haplotypes and single nucleotide polymorphisms (SNPs) with response to ranibizumab treatment for neovascular age-related macular degeneration (nAMD). <b><i>Patients and Methods:</i></b> This was a prospective cohort study involving 70 treatment-naive nAMD patients. Patients were genotyped for <i>CFH</i> haplotypes and SNPs in the <i>C3, ARMS2, </i>and <i>mtDNA </i>genes. Visual acuity and central macular thickness were assessed at baseline and during 6 monthly follow-up visits. Multivariate logistic regression was used to determine the association between genotypes and a gain of ≥15 letters at the 6-month endpoint after adjusting for potential confounders. <b><i>Results:</i></b><i>CFH</i> haplotypes were associated with a gain of ≥15 letters at the 6-month endpoint (p = 0.046). Patients expressing protective haplotypes were more likely to achieve a gain of ≥15 letters relative to the greatly increased risk haplotypes [OR 6.58 (95% CI: 1.37, 31.59)]. <b><i>Conclusion:</i></b><i>CFH</i> is implicated in nAMD patient treatment response to ranibizumab.