CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

Ophthalmic Res. 2016;56(3):132-8. doi: 10.1159/000446186. Epub 2016 Jul 13.

Abstract

Purpose: The aim of this study was to evaluate the prevalence of single nucleotide polymorphisms (SNPs) in complement factor H (CFH) Y402H and VEGF rs2146323 and rs699947 in exudative age-related macular degeneration (AMD) and their relationship with intravitreal anti-VEGF treatment response.

Methods: A total of 109 exudative AMD patients and 70 controls were included. Patients were classified as 'good responders' and 'nonresponders' based on the changes in best corrected visual acuity, central foveal thickness, lesion size, and the persistence of retinal hemorrhage after three dosages of anti-VEGF. We examined CFH, VEGF rs2146323 and rs699947 SNPs, and plasma interleukin-6 (IL-6) levels in both groups.

Results: In total, 42 patients (38.5%) and 11 controls (15.7%) had homozygote wild genotype TT (p = 0.002). The variant C allele frequency was 45% in controls and 31.7% in patients (p = 0.011). A and C allele frequencies for VEGF rs699947 and rs2416323 were similar between the control and patient groups (p = 0.947, p = 0.378). Both SNPs were similar in responders and nonresponders. No significant difference was detected between plasma IL-6 levels of the control and AMD groups (p = 0.594), but the levels were higher in good responders than nonresponders (p < 0.001).

Conclusion: CFH Y402H SNP might be protective for AMD in the Turkish population. VEGF rs2146323 and rs699947 SNPs have no relationship to exudative AMD formation, and none of these seem to have any effect on anti-VEGF response.

MeSH terms

  • Aged
  • Angiogenesis Inhibitors / therapeutic use
  • Bevacizumab / therapeutic use*
  • Complement Factor H / genetics
  • Complement Factor H / metabolism
  • DNA / genetics*
  • Female
  • Follow-Up Studies
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Retrospective Studies
  • Vascular Endothelial Growth Factor A / antagonists & inhibitors
  • Vascular Endothelial Growth Factor A / genetics*
  • Visual Acuity
  • Wet Macular Degeneration / drug therapy
  • Wet Macular Degeneration / genetics*
  • Wet Macular Degeneration / metabolism

Substances

  • Angiogenesis Inhibitors
  • CFH protein, human
  • Vascular Endothelial Growth Factor A
  • Bevacizumab
  • Complement Factor H
  • DNA