Background: Previous studies have suggested a close association between REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > A polymorphisms and Hirschsprung disease (HSCR) susceptibility. The results are inconsistent and contradictory. Thus, we performed a meta-analysis to evaluate the association of RET c.73 + 9277T > C and c.135G > A polymorphisms with risk of HSCR.Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and CNKI up to August 5 2019.Results: A total of 20 studies including 10 studies with 1136 cases and 2420 controls on c.73 + 9277T > C and 10 studies with 917 cases and 1159 controls on c.135G > A were selected. Pooled ORs revealed that c.73 + 9277T > C and c.135G > A polymorphisms were significantly associated with an increased risk of HSCR. Moreover, stratified analysis revealed that c.73 + 9277T > C and c.135G > A polymorphisms were associated with HSCR risk in Asian, Caucasian and Chinese populations.Conclusions: This meta-analysis result indicated that the RET c.73 + 9277T > C and c.135G > A polymorphisms were associated with susceptibility to HSCR.

译文

背景: 先前的研究表明,转染过程中的重排 (RET) c.73   +   9277T  > C和c.135G  > A多态性与Hirschsprung病 (HSCR) 易感性密切相关。结果是前后矛盾的。因此,我们进行了荟萃分析,以评估RET c.73   +   9277T  > C和c.135G  > A多态性与HSCR风险的关系。方法: 通过PubMed,Google Scholar,EMBASE和CNKI检索符合条件的文献,至2019年8月5日。结果: 共选择了20项研究,包括10项1136例和2420例对照的c.73   +   9277T  > C研究和10项917例和1159例对照的c.135G  > A研究。汇总ORs发现,c.73   +   9277T  > C和c.135G  > A多态性与HSCR风险增加显著相关。此外,分层分析显示,在亚洲、高加索和中国人群中,c.73   +   9277T  > C和c.135G  > A多态性与HSCR风险相关。meta分析结果表明,RET c.73   +   9277T  > C和c.135G  > A多态性与HSCR易感性相关。

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