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

Ophthalmologica. 2016;236(2):88-94. doi: 10.1159/000446819. Epub 2016 Jul 1.

Abstract

Objective: To evaluate the pharmacogenetic relationship between CFH haplotypes and single nucleotide polymorphisms (SNPs) with response to ranibizumab treatment for neovascular age-related macular degeneration (nAMD).

Patients and methods: This was a prospective cohort study involving 70 treatment-naive nAMD patients. Patients were genotyped for CFH haplotypes and SNPs in the C3, ARMS2, and mtDNA 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.

Results: CFH 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)].

Conclusion: CFH is implicated in nAMD patient treatment response to ranibizumab.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial

MeSH terms

  • Aged, 80 and over
  • Angiogenesis Inhibitors / administration & dosage
  • DNA / genetics*
  • Female
  • Fluorescein Angiography
  • Follow-Up Studies
  • Fundus Oculi
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Intravitreal Injections
  • Male
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Ranibizumab / administration & dosage*
  • Risk Factors
  • Time Factors
  • Vascular Endothelial Growth Factor A
  • Wet Macular Degeneration / diagnosis
  • Wet Macular Degeneration / drug therapy
  • Wet Macular Degeneration / genetics*

Substances

  • Angiogenesis Inhibitors
  • Vascular Endothelial Growth Factor A
  • DNA
  • Ranibizumab