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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. [ABSTRACT FROM AUTHOR]

Purpose To evaluate the association of CC-cytokine ligand 2 CCL2-2518 (rs1024611) single nucleotide polymorphism, complement factor H ( CFH Y402H) and their possible interaction in developing advanced age-related macular degeneration ( AMD). Methods In this case-control study, DNA samples from 266 patients with advanced AMD and 229 healthy controls were genotyped for CCL2 polymorphism and also 254 patients and 164 healthy controls were genotyped for CFH polymorphism. The possible associations of these polymorphisms with susceptibility to AMD independently and in different joint combinations were evaluated. Results The genotype frequency for CFH was found to be significantly different between AMD and normal controls (31.5% versus 20.7%, OR = 3.56, p < 0.001 for CC and 52.4% versus 41.5%, OR = 2.96, p < 0.001 for CT genotype). However, no significant association between CCL2 polymorphism and AMD was observed in this cohort ( OR = 1.15 and OR = 0.8, p = 0.172). Interestingly, studying the joint effects of two genotypes ( TT genotype of CFH Y402H and AG genotype of CCL2-2518) showed more significant protective effect against AMD (p = 0.0001), while the risk effect of CC and CT genotypes of CFH was only visible in the presence of AA genotype of CCL2-2518 (p = 0.044 and p = 0.05). Conclusion Complement factor H Y402H polymorphism is strongly associated with advanced type AMD. Although this study revealed no association of CCL2-2518 with AMD, the risk effect of CFH genotypes was only visible in the presence of AA genotype of CCL2-2518. AG genotype of CCL2-2518 in combination with TT genotype of CFH Y402H showed significant protective effect against AMD. [ABSTRACT FROM AUTHOR]