Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Pediatrics, Yazd Branch, Islamic Azad University, Yazd, Iran.
Fetal Pediatr Pathol. 2020 Dec;39(6):476-490. doi: 10.1080/15513815.2019.1672225. Epub 2019 Oct 7.
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. The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and CNKI up to August 5 2019. 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. This meta-analysis result indicated that the RET c.73 + 9277T > C and c.135G > A polymorphisms were associated with susceptibility to HSCR.
先前的研究表明，REarranged during Transfection（RET）c.73 + 9277T > C 和 c.135G > A 多态性与 Hirschsprung 病（HSCR）易感性密切相关。然而，研究结果并不一致，存在争议。因此，我们进行了一项荟萃分析，以评估 RET c.73 + 9277T > C 和 c.135G > A 多态性与 HSCR 风险之间的关联。通过 PubMed、Google Scholar、EMBASE 和中国知网检索截至 2019 年 8 月 5 日的相关文献。共纳入 20 项研究，其中 10 项研究共 1136 例病例和 2420 例对照分析 c.73 + 9277T > C 多态性，10 项研究共 917 例病例和 1159 例对照分析 c.135G > A 多态性。汇总的 OR 表明，c.73 + 9277T > C 和 c.135G > A 多态性与 HSCR 风险增加显著相关。此外，分层分析表明，c.73 + 9277T > C 和 c.135G > A 多态性与亚洲、白种人和中国人 HSCR 风险相关。本荟萃分析结果表明，RET c.73 + 9277T > C 和 c.135G > A 多态性与 HSCR 易感性相关。
