TBX1基因突变与人类圆锥动脉干畸形关系Meta分析

Meta-analysis of the association between TBX1 gene mutation and conotruncal defects

目的通过Meta分析，探讨TBXl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TBXl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TBXl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TBXl基因的突变率较低，TBXl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 evaluate the association between TBX1 gene mutation and conotruncal defects （CTDs） us- ing Meta-analysis. Methods Studies on the relationship between TBX1 gene mutation and CTDs were searched from the databases of Wanfang, VIP, CNKI, PubMed, Elsevier Science Direct and Cochrane Library from their establish- ment date to September of 2013. According to the standards of inclusion and exclusion, articles were evaluated. Poor quality studies were excluded. Relevant data were extracted from eligible studies to conduct recta-analysis. R2.15.3 soft- ware was applied for statistical analysis. Results Eight eligible studies involving 851 patients were analyzed in the study, including 6 English literatures and 2 Chinese literatures. Three studies found 15 gene mutations, and 5 studies found 26 gene polymorphisms. The results of Meta-analysis showed that the pooled TBX1 gene mutation rate was 2.13% （95 % CI： 0.76%--5.87%）. Conclusion The TBX1 gene mutation rate is low in CTDs patients. TBX1 gene mutation may not be the main genetic factor for CTDs.