Association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V polymorphisms with retinal angiomatous proliferation compared with typical age-related macular degeneration: a meta-analysis

Abstract

Purpose: To compare the published results of studies on the genotype association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V in cases diagnosed as retinal angiomatous proliferation (RAP) versus neovascular age-related macular degeneration (AMD) or healthy controls.

Methods: Heterogeneity of studies was evaluated using Cochran's Q test and I-square index. To modify the heterogeneity in the variables, we used random effects model. Meta-analysis was performed using STATA.

Results: Four studies were included with 1076 neovascular AMD patients, 222 RAP cases, and 2276 control subjects. Pooled overall odds ratios for RAP/AMD were 1.15 (95% CI 0.60-2.18) for GT versus GG, 3.52 (95% CI 1.25-9.91) for TT versus GG ARMS2, 0.98 (95% CI 0.22-4.29) for GA versus AA, 1.00 (95% CI 0.25-4.02) for GG versus AA CFHI62V, 0.57 (95% CI 0.35-0.93) for CT versus TT CFH Y402H, and 0.40 (95% CI 0.22-0.74) for CC versus TT CFH Y402H. Regression analysis showed that ARMS2 TT genotype has a statistically significant effect on RAP versus AMD compared to CFH genotypes (P < 0.001).

Conclusion: This meta-analysis disclosed a stronger effect of ARMS2 genotypes in RAP cases compared with CFH Y402H and I62V genotypes.

Keywords: ARMS2/LOC387715 A69S; Age-related macular degeneration (AMD); CFH I62V; CFH Y402H; Mechanism of pathogenesis; Meta-analysis; Retinal angiomatous proliferation (RAP).