Supplementary Material for: Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

<b><i>Purpose:</i></b> To identify the associations of the two complement factor I (CFI) polymorphisms <i>rs10033900</i> and <i>rs2285714</i> with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. <b><i>Methods:</i></b> A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of <i>rs10033900</i> and <i>rs2285714</i> were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ<sup>2</sup> test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of <i>rs10033900</i> and <i>rs2285714</i> based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. <b><i>Results:</i></b> No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, <i>rs10033900</i> = 0.814, p <i>rs10033900</i> < 0.001; OR <i>rs2285714</i> = 1.221, p <i>rs2285714</i> < 0.001). For <i>rs2285714</i>, the results of the meta-analysis were less reliable due to its heterogeneity. <b><i>Conclusions:</i></b> In our case-control study, neither of the two SNPs most studied (<i>rs10033900</i> or <i>rs2285714</i>) in the <i>CFI</i> gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the <i>CFI</i> gene and AMD.