Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Department of Spine Surgery, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
Biosci Rep. 2018 Nov 23;38(6). doi: 10.1042/BSR20181676. Print 2018 Dec 21.
This meta-analysis was conducted with the aim of investigating the association between gene polymorphisms and non-syndromic cleft lip (CL) with or without cleft palate (NSCL/P) predisposition.
A comprehensive literature search was performed in six online databases including PubMed, Embase, ISI Web of Science, CENTRAL, CNKI, and Wanfang from inception up to June 2018 without language restriction. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (95%CIs) were calculated under allele model of inheritance to indicate the association between polymorphisms and NSCL/P. Risk of bias was assessed through the Newcastle-Ottawa scale (NOS). Predetermined stratified and sensitivity analyses were performed using the RevMan 5.3 software, publication bias were evaluated by Egger's and Begg's tests.
Seven case-control studies comprising 1617 NSCL/P patients and 2143 healthy controls were identified and included in the present study, a total of eight loci were investigated in the present study: rs3809857 was significantly associated with NSCL/P vulnerability (G compared with T, OR = 1.34, 95%CI: 1.15-1.56, =0.0001), a significant association between rs9890413 polymorphism and NSCL/P susceptibility (A compared with G, OR = 1.25, 95%CI: 1.06-1.47, =0.007) was detected as well. Since only few studies reported detailed data about the association between rs142167, rs7207916, rs199498, rs111769, rs12452064, rs11653738, and NSCL/P risk, these results were not combined using meta-analysis.
Based on the findings of our current study, the rs3809857 and rs9890413 polymorphisms of appeared to be associated with NSCL/P. Limited evidence is found to support the association between other polymorphisms and risk of NSCL/P.
本荟萃分析旨在研究基因多态性与非综合征性唇裂（CL）伴或不伴腭裂（NSCL/P）易感性之间的关联。
从建库至 2018 年 6 月，我们在 6 个在线数据库（PubMed、Embase、ISI Web of Science、CENTRAL、CNKI 和万方）中进行了全面的文献检索，不限制语言。采用等位基因遗传模型计算汇总优势比（OR）和相应的 95%置信区间（95%CI），以表明多态性与 NSCL/P 之间的关系。通过纽卡斯尔-渥太华量表（NOS）评估偏倚风险。使用 RevMan 5.3 软件进行预定的分层和敏感性分析，使用 Egger 和 Begg 检验评估发表偏倚。
共纳入 7 项病例对照研究，包括 1617 例 NSCL/P 患者和 2143 例健康对照者，共研究了 8 个基因座：rs3809857 与 NSCL/P 易感性显著相关（G 与 T 相比，OR=1.34，95%CI：1.15-1.56，=0.0001），rs9890413 多态性与 NSCL/P 易感性显著相关（A 与 G 相比，OR=1.25，95%CI：1.06-1.47，=0.007）。由于只有少数研究报告了 rs142167、rs7207916、rs199498、rs111769、rs12452064、rs11653738 与 NSCL/P 风险之间的关联的详细数据，因此这些结果未使用荟萃分析进行合并。
基于本研究的结果，发现基因的 rs3809857 和 rs9890413 多态性与 NSCL/P 有关。有有限的证据支持其他基因多态性与 NSCL/P 风险之间的关系。
