Association of risk genotypes of ARMS2/LOC387715 A69S and CFH Y402H with age-related macular degeneration with and without reticular pseudodrusen: a meta-analysis

Abstract

To pool the results of published data regarding association of ARMS2/LOC387715 A69S, CFH Y402H and CFH I62V genotypes with age-related macular degeneration (AMD) with and without reticular pseudodrusen (RPD). The results of this pooled data used to estimate the contribution of each of these genes in the pathogenesis of RPD. Heterogeneity of studies was evaluated using Cochran Q-test and I2 index. To modify the heterogeneity in the variables, we used the random effects model. Meta-analysis was performed using STATA. Odds ratio (OR) of genotypes in each study was calculated. Six studies of AMD with RPD and AMD without RPD cases included in this analysis. Analysis of pooled data showed that risk genotypes frequency of ARMS2 A69S was significantly different between AMD with RPD and AMD without RPD [OR = 1.82, 95% confidence interval (CI): 1.26–2.63 for GT versus GG ARMS2 A69S; OR = 2.40, 95% CI: 1.50–3.84 for TT versus GG ARMS2 A69S]. Further analysis also showed that the risk genotype frequency of CFH Y402H was not significantly different between these two groups (OR = 1.02, 95% CI: 0.69–1.50 for CT versus TT CFH Y402H; OR = 1.09, 95% CI: 0.74–1.60 for CC versus TT CFH Y402H). Comparison of above-mentioned ORs revealed statistically higher values for GT and TT genotypes of ARMS2 A69S compared with CFH Y402H genotypes (p = 0.011, p = 0.014, respectively).Our analysis showed stronger contribution of ARMS2 in AMD with RPD group versus AMD without RPD group, in comparison with CFH genotypes.