目的:通过系统评价和荟萃分析鉴定与中心性浆液性脉络膜视网膜病变(CSCR)相关的单核苷酸多态性(SNPs),并比较CSCR之间的关联配置文件,新生血管性年龄相关性黄斑变性(nAMD)和息肉状脉络膜血管病变(PCV)。
方法:我们搜索了EMBASE,从数据库的开始日期到2020年9月12日,PubMed和WebofScience用于CSCR的遗传研究。然后,我们对两项以上研究报告的所有SNP进行了荟萃分析,并计算了合并的OR和95%CI。我们还进行了敏感性分析,并采用漏斗图来评估潜在的发表偏倚。
结果:共审查了415篇出版物,其中10人符合meta分析的条件.我们发现了至少两次报道的10个SNP。荟萃分析和敏感性分析证实了CSCR与三个基因中的六个SNP之间的显着关联。即年龄相关性黄斑病变易感性2(ARMS2)(rs10490924,OR=1.37;p=0.00064),补体因子H(CFH)(rs800292,OR=1.44;p=7.80×10-5;rs1061170,OR=1.34;p=0.0028;rs1329428,OR=1.40;p=0.012;rs2284664,OR=1.36;p=0.0089)和肿瘤坏死因子受体超家族,成员10a(TNFRSF10A)(rs13278062,OR=1.34;p=1.44×10-15)。其中,只有TNFRSF10Ars13278062对CSCR表现出相同的影响趋势,nAMD和PCV,而ARMS2和CFH中的SNP在SNP关联中显示出相反的趋势。
结论:这项研究证实了ARMS2,CFH和TNFRSF10A与CSCR的关联,并揭示ARMS2、CFH和TNFRSF10A可能影响CSCR的不同表型表达,nAMD和PCV。
OBJECTIVE: To identify single-nucleotide polymorphisms (SNPs) associated with central serous chorioretinopathy (CSCR) by a systematic review and meta-analysis, and to compare the association profiles between CSCR, neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV).
METHODS: We searched the EMBASE, PubMed and Web of Science for genetic studies of CSCR from the starting dates of the databases to 12 September 2020. We then performed meta-analyses on all SNPs reported by more than two studies and calculated the pooled OR and 95% CIs. We also conducted sensitivity analysis and adopted the funnel plot to assess potential publication bias.
RESULTS: Totally 415 publications were reviewed, among them 10 were eligible for meta-analysis. We found 10 SNPs that have been reported at least twice. Meta-analysis and sensitivity analysis confirmed significant associations between CSCR and six SNPs in three genes, namely age-related maculopathy susceptibility 2 (ARMS2) (rs10490924, OR=1.37; p=0.00064), complement factor H (CFH) (rs800292, OR=1.44; p=7.80×10-5; rs1061170, OR=1.34; p=0.0028; rs1329428, OR=1.40; p=0.012; and rs2284664, OR=1.36; p=0.0089) and tumour necrosis factor receptor superfamily, member 10a (TNFRSF10A) (rs13278062, OR=1.34; p=1.44×10-15). Among them, only TNFRSF10A rs13278062 showed the same trend of effect on CSCR, nAMD and PCV, while the SNPs in ARMS2 and CFH showed opposite trends in the SNP associations.
CONCLUSIONS: This study confirmed the associations of ARMS2, CFH and TNFRSF10A with CSCR, and revealed that ARMS2, CFH and TNFRSF10A may affect different phenotypic expressions of CSCR, nAMD and PCV.