Supplementary Material for: Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis

Background: With the increasing number of studies indicating that two single-nucleotide polymorphisms (SNPs), rs1061170 and rs1410996, in complement factor H (CFH) might be associated with the susceptibility to age-related macular degeneration (AMD), the exact association still remains uncertain. Thus, we conducted a meta-analysis to systematically summarize and clarify the association between the two SNPs and the AMD risk particularly in an Asian population. Methods: A systematic search of studies on the association of two SNPs with the susceptibility to AMD was conducted in PubMed, Embase and Web of Science. Summary odds ratios (ORs) and 95% confidence intervals (CIs) of allele contrast and genotype contrast were estimated using the random or fixed effects model. The Q statistic test was used to identify heterogeneity, and the funnel plot was adopted to evaluate publication bias. A total of 19 case-control studies on rs1061170 and 8 studies on rs1410996 were included. Results: Clearly a significantly increased trend of AMD was observed with the rs1061170 (T vs. C: OR = 1.91, 95% CI = 1.71-2.13, p_H = 0.029; TC vs. CC: OR = 2.11, 95% CI = 1.30-3.42, p_H = 0.792; TT vs. CC: OR = 3.90, 95% CI = 2.45-6.22, p_H = 0.774). Similarly, the rs1410996 polymorphism also showed a rising AMD tendency (T vs. C: OR = 1.48, 95% CI = 1.17-1.87, p_H < 0.001; TC vs. CC: OR = 1.52, 95% CI = 1.13-2.04, p_H = 0.002; TT vs. CC: OR = 2.10, 95% CI = 1.27-3.49, p_H < 0.001). What is more, subgroup analysis revealed that both polymorphisms indicated a high risk of nAMD (neovascular AMD) in Asian populations. Conclusions: This meta-analysis suggested that CFH rs1061170 and rs1410996 polymorphisms were associated with AMD risk, both of which demonstrated a higher susceptibility to AMD, especially to nAMD. However, the results of rs1410996 should be interpreted with caution due to the limited sample and heterogeneity. Large-scale and well-designed studies are needed to validate our findings.