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Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis

BACKGROUND: There are numerous published studies on the association between RET polymorphisms and susceptibility to Hirschsprung disease (HSCR). However, some of the results are inconsistent and the studies were conducted with small sample sizes. Therefore, we performed a meta-analysis to clarify th...

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Autores principales: Mu, Jianhua, Zhang, Yuxi, Liao, Guoying, Li, Xinxin, Luo, Yinyan, Huang, Zhaorong, Luo, Caiyun, Wu, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618721/
https://www.ncbi.nlm.nih.gov/pubmed/36324815
http://dx.doi.org/10.3389/fped.2022.1030933
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author Mu, Jianhua
Zhang, Yuxi
Liao, Guoying
Li, Xinxin
Luo, Yinyan
Huang, Zhaorong
Luo, Caiyun
Wu, Kai
author_facet Mu, Jianhua
Zhang, Yuxi
Liao, Guoying
Li, Xinxin
Luo, Yinyan
Huang, Zhaorong
Luo, Caiyun
Wu, Kai
author_sort Mu, Jianhua
collection PubMed
description BACKGROUND: There are numerous published studies on the association between RET polymorphisms and susceptibility to Hirschsprung disease (HSCR). However, some of the results are inconsistent and the studies were conducted with small sample sizes. Therefore, we performed a meta-analysis to clarify the relationship. METHODS: Relevant data were retrieved from PubMed, Web of Science, Cochrane Library, EMBASE, CNKI, and Google Scholar according to PRISMA guidelines. Odds ratios (OR) were calculated to assess susceptibility to HSCR. Meanwhile, heterogeneity and publication bias were also calculated by R software package (version 4.2.1). The protocol was published in PROSPERO (CRD42022348940). RESULTS: A total of 12 studies were included in the meta-analysis and comprised 12 studies on the RET polymorphism rs2435357 (1,939 subjects and 3,613 controls) and 7 studies on the RET polymorphism rs2506030 (1,849 patients with HSCR and 3,054 controls). The analysis revealed that rs2435357 [A vs. G: odds ratio (OR) = 3.842, 95% confidence interval (CI) 2.829–5.220; AA vs. GG: OR = 2.597, 95% CI 1.499–4.501; AA + AG vs. GG: OR = 6.789, 95% CI 3.0711–14.9973; AA vs. AG + GG: OR = 8.156, 95%CI 5.429–12.253] and rs2506030 (A vs. G: OR = 0.519, 95% CI 0.469–0.573; AA vs. GG: OR = 0.543, 95% CI 0.474–0.623; AA + AG vs. GG: OR = 0.410, 95% CI 0.360–0.468; AA vs. AG + GG: OR = 0.361, 95%CI 0.292–0.447) were significantly associated with susceptibility to HSCR. CONCLUSIONS: The polymorphisms rs2435357 and rs2506030 in the RET may be related to susceptibility to HSCR, of which rs2435357 (T > C) is the causal locus and rs2506030 (A > G) is the protective locus. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/, identifier:CRD42022348940.
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spelling pubmed-96187212022-11-01 Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis Mu, Jianhua Zhang, Yuxi Liao, Guoying Li, Xinxin Luo, Yinyan Huang, Zhaorong Luo, Caiyun Wu, Kai Front Pediatr Pediatrics BACKGROUND: There are numerous published studies on the association between RET polymorphisms and susceptibility to Hirschsprung disease (HSCR). However, some of the results are inconsistent and the studies were conducted with small sample sizes. Therefore, we performed a meta-analysis to clarify the relationship. METHODS: Relevant data were retrieved from PubMed, Web of Science, Cochrane Library, EMBASE, CNKI, and Google Scholar according to PRISMA guidelines. Odds ratios (OR) were calculated to assess susceptibility to HSCR. Meanwhile, heterogeneity and publication bias were also calculated by R software package (version 4.2.1). The protocol was published in PROSPERO (CRD42022348940). RESULTS: A total of 12 studies were included in the meta-analysis and comprised 12 studies on the RET polymorphism rs2435357 (1,939 subjects and 3,613 controls) and 7 studies on the RET polymorphism rs2506030 (1,849 patients with HSCR and 3,054 controls). The analysis revealed that rs2435357 [A vs. G: odds ratio (OR) = 3.842, 95% confidence interval (CI) 2.829–5.220; AA vs. GG: OR = 2.597, 95% CI 1.499–4.501; AA + AG vs. GG: OR = 6.789, 95% CI 3.0711–14.9973; AA vs. AG + GG: OR = 8.156, 95%CI 5.429–12.253] and rs2506030 (A vs. G: OR = 0.519, 95% CI 0.469–0.573; AA vs. GG: OR = 0.543, 95% CI 0.474–0.623; AA + AG vs. GG: OR = 0.410, 95% CI 0.360–0.468; AA vs. AG + GG: OR = 0.361, 95%CI 0.292–0.447) were significantly associated with susceptibility to HSCR. CONCLUSIONS: The polymorphisms rs2435357 and rs2506030 in the RET may be related to susceptibility to HSCR, of which rs2435357 (T > C) is the causal locus and rs2506030 (A > G) is the protective locus. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/, identifier:CRD42022348940. Frontiers Media S.A. 2022-10-17 /pmc/articles/PMC9618721/ /pubmed/36324815 http://dx.doi.org/10.3389/fped.2022.1030933 Text en © 2022 Mu, Zhang, Liao, Li, Luo, Huang, Luo and Wu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Mu, Jianhua
Zhang, Yuxi
Liao, Guoying
Li, Xinxin
Luo, Yinyan
Huang, Zhaorong
Luo, Caiyun
Wu, Kai
Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title_full Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title_fullStr Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title_full_unstemmed Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title_short Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis
title_sort association of rs2435357 and rs2506030 polymorphisms in ret with susceptibility to hirschsprung disease: a systematic review and meta-analysis
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618721/
https://www.ncbi.nlm.nih.gov/pubmed/36324815
http://dx.doi.org/10.3389/fped.2022.1030933
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