Abstract
The purpose of this study is to investigate whether the Y402H polymorphism (rs1061170, a T-to-C transition at amino acid position 402) in the complement factor H (CFH) gene have a pharmacogenetics effect on the anti-vascular endothelial growth factor (VEGF) treatment for neovascular age-related macular degeneration (AMD). We performed a meta-analysis using databases including PubMed and EMBASE to find relevant studies. 13 published association studies were selected for this meta-analysis, including 2704 patients. For the CFH Y402H polymorphism, anti-VEGF treatment was much less effective in AMD patients with the CFH CC genotype (CC versus TT: odds ratio (OR) = 55, 95% confidence interval (CI), 0.31 to 0.95, P = 0.03; CC versus CT: OR = 0.60, 95% CI, 0.40 to 0.91, P = 0.02; and CC versus CT + TT: OR = 0.59, 95% CI, 0.38 to 0.90, P = 0.02, respectively). In subgroup analysis, CFH Y402H polymorphism was more likely to be a predictor of response for Caucasians (CC versus CT+TT: OR = 0.63, 95% CI, 0.42 to 0.95, P = 0.03). In conclusion, pharmacogenetics of CFH Y402H polymorphism may play a role in response to anti-VEGF treatment for neovascular AMD, especially for Caucasians.
Highlights
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in people aged over 50 in the developed world[1]
To the best of our knowledge, only one report conducted a meta-analysis focusing on the relationship between the complement factor H (CFH) Y402H polymorphism and treatment response of neovascular age-related macular degeneration (AMD), indicating that CFH Y402H polymorphism might be associated with treatment response outcome in neovascular AMD21
It has been suggested that genetic factors may influence response to anti-vascular endothelial growth factor (VEGF) treatment in neovascular AMD8,9
Summary
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in people aged over 50 in the developed world[1]. To the best of our knowledge, only one report conducted a meta-analysis focusing on the relationship between the CFH Y402H polymorphism and treatment response of neovascular AMD, indicating that CFH Y402H polymorphism might be associated with treatment response outcome in neovascular AMD21 This meta-analysis was limited in scope, as it included in the analysis several forms of treatments, including anti-VEGF agents, photodynamic therapy and antioxidants/zinc, and it included only six trials using anti-VEGF treatment as monotherapy (808 patients). As more recent relevant data are available, we decided to conduct an independent assessment of the literature and to undertake a new meta-analysis in order to get a more convincing and precise conclusion about the relationship between the CFH Y402H polymorphism and the response to anti-VEGF treatment for neovascular AMD
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