Wu Mingxing, Guo Yunan, Ma Yanran, Zheng Zheng, Wang Qian, Zhou Xiyuan
Department of Ophthalmology, Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Ophthalmic Res. 2016;55(3):135-44. doi: 10.1159/000442257. Epub 2016 Jan 5.
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.
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.
Clearly a significantly increased trend of AMD was observed with the rs1061170 (T vs. C: OR = 1.91, 95% CI = 1.71-2.13, pH = 0.029; TC vs. CC: OR = 2.11, 95% CI = 1.30-3.42, pH = 0.792; TT vs. CC: OR = 3.90, 95% CI = 2.45-6.22, pH = 0.774). Similarly, the rs1410996 polymorphism also showed a rising AMD tendency (T vs. C: OR = 1.48, 95% CI = 1.17-1.87, pH < 0.001; TC vs. CC: OR = 1.52, 95% CI = 1.13-2.04, pH = 0.002; TT vs. CC: OR = 2.10, 95% CI = 1.27-3.49, pH < 0.001). What is more, subgroup analysis revealed that both polymorphisms indicated a high risk of nAMD (neovascular AMD) in Asian populations.
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.
越来越多的研究表明，补体因子H（CFH）中的两个单核苷酸多态性（SNP），即rs1061170和rs1410996，可能与年龄相关性黄斑变性（AMD）的易感性有关，但确切关联仍不确定。因此，我们进行了一项荟萃分析，以系统地总结和阐明这两个SNP与AMD风险之间的关联，特别是在亚洲人群中。
在PubMed、Embase和Web of Science中对关于两个SNP与AMD易感性关联的研究进行系统检索。使用随机或固定效应模型估计等位基因对比和基因型对比的汇总比值比（OR）和95%置信区间（CI）。采用Q统计检验识别异质性，并采用漏斗图评估发表偏倚。共纳入19项关于rs1061170的病例对照研究和8项关于rs1410996的研究。
显然，rs1061170与AMD呈显著增加趋势（T vs. C：OR = 1.91，95%CI = 1.71 - 2.13，P < 0.029；TC vs. CC：OR = 2.11，95%CI = 1.30 - 3.42，P = 0.792；TT vs. CC：OR = 3.
