[关键词]
[摘要]
目的:探讨经典通路SERPING1基因rs2511989基因多态性与年龄相关性黄斑变性(age-related macular degeneration, AMD)的相关性。
方法:检索中国学术期刊网(CNKI)、PubMed、Cochrane、Embase以及Web of Science数据库,使用随机效应模型,使用OR值及其95%可信区间评价SERPING1 rs2511989 基因多态性与AMD易感性的关联程度,同时对入选文献异质性,敏感性以及发表偏倚等进行评估。
结果:共纳入15项病例对照研究,收集8 657例AMD患者,对照组5 393例。各个遗传模型中均未发现SERPING1基因多态性与AMD发病具有相关性。(显性模型:OR=0.960,95%CI:0.918~1.003,P=0.009; 隐性模型:OR=0.898,95%CI:0.791~1.019,P=0.035; 共显性纯合模型:OR=0.881,95%CI:0.770~1.008,P=0.003; 共显性杂合模型:OR=0.962,95%CI:0.917~1.010,P=0.050)。但进一步研究发现SERPING1基因多态性与新生血管型AMD显著相关。(显性模型:OR=0.691,95%CI:0.547~0.872; 共显性纯合模型:OR=0.661,95%CI:0.450~0.971; 共显性杂合模型:OR=0.754,95%CI:0.589~0.964)。亚组分析未发现种族与国家对rs2511989基因多态性与AMD有影响。
结论:通常情况下SERPING1 rs2511989基因多态性与AMD无相关性,但在新生血管类型AMD可能与其存在相关性。期待更多研究来证实该假说。
[Key word]
[Abstract]
AIM: To explore the association between the polymorphism rs2511989 in the classical pathway geneSERPING1(C1 inhibitor)and age-related macular degeneration(AMD).
METHODS: A random-effect Meta-analysis was performed. An electronic search was done in CNKI, PubMed, the Cochrane Collaboration's Database, Embase, and the ISI Web of Knowledge. Odds ratios(OR)and their 95% confidence interval(CI)were calculated to assess the strength of association between SERPING1 rs2511989 polymorphism and AMD susceptibility. Heterogeneity, sensitivity analysis and publication bias were also tested.
RESULTS: A total of 15 case-control studies with 8657 cases and 5393 controls were finally included in this Meta-analysis. There was no significant association between SERPING1 and AMD in all genetic models.(Dominant model: OR=0.960, 95%CI: 0.918-1.003, P=0.009; recessive model: OR=0.898, 95%CI: 0.791-1.019, P=0.035; homozygote model: OR=0.881, 95%CI: 0.770-1.008, P=0.003; heterozygote model: OR=0.962, 95%CI: 0.917-1.010, P=0.050). However, the associations between SERPING1 and neovascular AMD were significant in three models(dominant model: OR=0.691, 95%CI: 0.547-0.872; homozygote model: OR=0.661, 95%CI: 0.450-0.971; heterozygote model: OR=0.754, 95%CI: 0.589-0.964). Subgroup analysis by ethnicity and country did not find significant association between rs2511989 polymorphism and AMD susceptibility.
CONCLUSION: SERPING1 rs2511989 does not associates with AMD generally but may associate with neovascular AMD. More studies are required to verify the hypothesis.
[中图分类号]
[基金项目]
国家自然科学基金项目(No.81270988); 辽宁省高等学校科学研究一般项目(No.L2014305); 中国医科大学附属第四医院青年创新发展基金项目(No.YB1217)