亚洲人群干扰素调节因子6基因多态性与非综合征型唇腭裂相关性研究的Meta分析  

Meta-analysis of the association between interferon regulatory factor 6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate in Asian population

作　　者：侯亚丽[1] 马利[1] Hou Yali;Ma Li(Dept.of Oral and Maxillofacial Surgery,Shandong Provincial Hospital Affiliated to Shandong University,Jinan 250021,China)

机构地区：[1]山东大学附属省立医院口腔颌面外科,济南250021

出　　处：《国际口腔医学杂志》2020年第4期397-405,共9页International Journal of Stomatology

基　　金：山东省医药卫生科技发展规划项目(2016WSB01049)。

摘　　要：目的本研究旨在探讨在亚洲人群中干扰素调节因子6基因(IRF6)的rs2235371和rs642961位点多态性与非综合征型唇腭裂的相关性。方法数据提取由2位评审者独立完成。用比值比(OR)及其95%置信区间(CI)评价IRF6基因多态性与非综合征型唇腭裂发病风险的关系。采用敏感性分析来评估单项研究对总体估计的影响。采用Egger试验和漏斗图评估出版偏差。结果 IRF6 rs2235371、rs642961位点与唇腭裂风险在杂合子比较中有显著差异。在非综合征型唇腭裂中,对于rs2235371位点,GA、AA和GA+AA基因型与GG基因型的OR(95% CI)分别为0.77(0.73~0.81)、0.53(0.41~0.70)和0.77(0.72~0.81);对于rs642961位点,GA、AA和GA+AA基因型与GG基因型的OR(95% CI)分别为1.34(1.09~1.65)、3.56(2.14~5.92)和1.45(1.19~1.77)。敏感性分析的结果表明,任何一项单独的研究均不能够影响合并的OR。漏斗图和Egger试验均未检测到发表偏倚。结论 IRF6 rs642961位点多态性可能增加亚洲人群非综合征型唇腭裂的发病风险,而rs2235371位点多态性不会增加非综合征型唇腭裂的发病风险。Objective This Meta-analysis was to investigate the relationship of the interferon regulatory factor 6(IRF6)gene rs2235371 and rs642961 polymorphism and nonsyndromic cleft lip with or without cleft palate(NSCL/P)in Asian population.Methods Data extraction was independently performed by two reviewers.Odds ratio(OR)and its 95%confidence interval(CI)to estimate the associations between IRF6 genetic polymorphisms and the risk of NSCL/P.Variant effects on NSCL/P were assessed using per-genotype approach.A sensitivity analysis was employed to evaluate the influence of single studies on the overall estimate.Publication bias was assessed using the Egger’s test and funnel plot.Results Significant difference was found between IRF6 rs2235371,rs642961 and cleft lip with or without cleft palate(CL/P)risk in heterozygote comparison.For rs2235371,GA,AA and GA+AA carried respectively,0.77(0.73-0.81),0.53(0.41-0.70)and 0.77(0.72-0.81)times lower odds of NSCL/P than GG genotype.For rs642961,GA,AA and GA+AA carried respectively,1.34(1.09-1.65),3.56(2.14-5.92)and 1.45(1.19-1.77)times higher odds of NSCL/P than GG genotype.The result of sensitivity analysis indicated that no single study could affect the pooled ORs.In addition,there was not publication bias detected by either the funnel plot or Egger’s test.Conclusion These results suggested that the IRF6 rs642961 polymorphism,but not rs2235371,might increase the risk of NSCL/P in the Asian populations.However,more relevant case-control studies are required to obtain more precise results.

关 键 词：非综合征型唇腭裂 单核苷酸多态性 干扰素调节因子6 META分析 

分 类 号：Q754[生物学—分子生物学]