Yang Fei, Sun Yaoyao, Jin Zhongtian, Cheng Yong, Li Shanshan, Bai Yujing, Huang Lvzhen, Li Xiaoxin
Department of Ophthalmology, Peking University People's Hospital, Beijing, PR China.
Ophthalmologica. 2014;232(1):37-45. doi: 10.1159/000358241. Epub 2014 Apr 8.
To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study.
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 rs10033900 and rs2285714 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(2) test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described.
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, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity.
In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI 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 CFI gene and AMD.
在一项中国病例对照研究中，确定两种补体因子I（CFI）基因多态性rs10033900和rs2285714与新生血管性年龄相关性黄斑变性（nAMD）及息肉状脉络膜血管病变（PCV）风险之间的关联。
本研究共纳入900名受试者，包括300名对照、300名nAMD患者和300名PCV患者。从静脉血白细胞中提取基因组DNA。采用基质辅助激光解吸/电离飞行时间质谱法测定rs10033900和rs2285714的等位基因变异。通过χ²检验并经逻辑回归分析对年龄和性别进行校正，以检验病例组和对照组之间等位基因分布的差异。我们还根据目前文献中的现有证据，对rs10033900和rs2285714的病例对照研究进行了荟萃分析。如前所述，荟萃分析通过逆方差固定效应模型进行。
未观察到CFI的两种多态性与AMD风险之间存在统计学显著关联，包括nAMD、PCV及合并的AMD（所有比较的p>0.05）。通过荟萃分析，我们检测到这两个单核苷酸多态性（SNP）均与晚期AMD存在显著关联，这与先前结果一致（比值比，OR，rs10033900 = 0.814，p rs10033900 < 0.001；OR rs2285714 = 1.221，p rs2285714 < 0.001）。对于rs2285714，由于其异质性，荟萃分析结果的可靠性较低。
在我们的病例对照研究中，CFI基因中研究最多的两个SNP（rs10033900或rs2285714）均不是中国人群发生nAMD或PCV的危险因素。需要开展更多大规模、全面且设计良好的关联研究，以更好地了解种族及其他基因相互作用在CFI基因与AMD关联中的作用。
