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目的通过Meta分析,探讨TBX1基因突变与人类圆锥动脉干畸形发病的相关性。方法制定原始文献的纳入标准、排除标准及检索策略,全面检索建库至2013年9月的中英文数据库(万方数据库、维普中文科技期刊数据库和中国期刊全文数据库,以及PubMed、Elsevier Science Direct和Cochrane Library数据库),同时辅以文献追溯法以尽可能获得全部有关TBX1基因突变与圆锥动脉干畸形的研究,剔除不符合要求的文献后,提取相关数据并应用Meta分析方法对纳入研究的结果进行定量合并,统计学分析采用R2.15.3软件。结果最终纳入Meta分析的中英文文献共8篇,包括6篇英文文献和2篇中文文献,累计总病例数为851例。其中3项研究发现了15个突变位点,5项研究中发现了26个多态性位点。Meta分析结果显示,合并TBX1基因的突变率=2.13%(95%CI:0.76%~5.87%)。结论圆锥动脉干畸形患者中TBX1基因的突变率较低,TBX1基因的突变可能并不是人类圆锥动脉干畸形发病的主要遗传学因素。
Objective To investigate the relationship between TBX1 gene mutation and the incidence of human conotruncal artery deformity by Meta-analysis. Methods To establish the inclusion criteria, exclusion criteria and search strategies of the original documents, and to search the Chinese-English databases (Wanfang Database, VIP Chinese Journal of Science and Technology and Chinese Journal Full-text Database), PubMed, Elsevier Science Direct and PubMed Cochrane Library database), supplemented by literature retrospective approach to get as much as possible all the TBX1 gene mutation and conotruncal artery deformity research, excluding substandard documents, extract the relevant data and the application of meta-analysis of the results of the study included Quantitative merger, statistical analysis using R2.15.3 software. Results The final 8 articles, including 6 English articles and 2 Chinese articles, were included in the meta-analysis. The total number of cases was 851. Three of these studies found 15 mutation sites and 26 polymorphic sites were found in 5 studies. Meta analysis showed that the mutation rate of combined TBX1 gene was 2.13% (95% CI: 0.76% -5.87%). Conclusion The mutation rate of TBX1 gene in patients with congenital heart disease is low, and the mutation of TBX1 gene may not be the major genetic factor in the congenital heart disease.