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RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children

BACKGROUND: Neuroblastoma, a neuroendocrine tumor originating from the sympathetic ganglia, is one of the most common malignancies in childhood. RTEL1 is critical in many fundamental cellular processes, such as DNA replication, DNA damage repair, genomic integrity, and telomere stability. Single nuc...

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Autores principales: Zhang, Ting, Zhou, Chunlei, Guo, Jiejie, Chang, Jiamin, Wu, Haiyan, He, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10675872/
https://www.ncbi.nlm.nih.gov/pubmed/38001404
http://dx.doi.org/10.1186/s12885-023-11642-3
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author Zhang, Ting
Zhou, Chunlei
Guo, Jiejie
Chang, Jiamin
Wu, Haiyan
He, Jing
author_facet Zhang, Ting
Zhou, Chunlei
Guo, Jiejie
Chang, Jiamin
Wu, Haiyan
He, Jing
author_sort Zhang, Ting
collection PubMed
description BACKGROUND: Neuroblastoma, a neuroendocrine tumor originating from the sympathetic ganglia, is one of the most common malignancies in childhood. RTEL1 is critical in many fundamental cellular processes, such as DNA replication, DNA damage repair, genomic integrity, and telomere stability. Single nucleotide polymorphisms (SNPs) in the RTEL1 gene have been reported to confer susceptibility to multiple cancers, but their contributing roles in neuroblastoma remain unclear. METHODS: We conducted a study on 402 neuroblastoma cases and 473 controls to assess the association between four RTEL1 SNPs (rs3761124 T>C, rs3848672 T>C, rs3208008 A>C and rs2297441 G>A) and neuroblastoma susceptibility. RESULTS: Our results show that rs3848672 T>C is significantly associated with an increased risk of neuroblastoma [CC vs. TT/TC: adjusted odds ratio (OR)=1.39, 95% confidence interval (CI)=1.02-1.90, P=0.038]. The stratified analysis further indicated that boy carriers of the rs3848672 CC genotype had a higher risk of neuroblastoma, and all carriers had an increased risk of developing neuroblastoma of mediastinum origin. Moreover, the rs2297441 AA genotype increased neuroblastoma risk in girls and predisposed children to neuroblastoma arising from retroperitoneal. CONCLUSION: Our study indicated that the rs3848672 CC and rs2297441 AA genotypes of the RTEL1 gene are significantly associated with an increased risk of neuroblastoma in Chinese children in a gender- and site-specific manner. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12885-023-11642-3.
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spelling pubmed-106758722023-11-24 RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children Zhang, Ting Zhou, Chunlei Guo, Jiejie Chang, Jiamin Wu, Haiyan He, Jing BMC Cancer Research BACKGROUND: Neuroblastoma, a neuroendocrine tumor originating from the sympathetic ganglia, is one of the most common malignancies in childhood. RTEL1 is critical in many fundamental cellular processes, such as DNA replication, DNA damage repair, genomic integrity, and telomere stability. Single nucleotide polymorphisms (SNPs) in the RTEL1 gene have been reported to confer susceptibility to multiple cancers, but their contributing roles in neuroblastoma remain unclear. METHODS: We conducted a study on 402 neuroblastoma cases and 473 controls to assess the association between four RTEL1 SNPs (rs3761124 T>C, rs3848672 T>C, rs3208008 A>C and rs2297441 G>A) and neuroblastoma susceptibility. RESULTS: Our results show that rs3848672 T>C is significantly associated with an increased risk of neuroblastoma [CC vs. TT/TC: adjusted odds ratio (OR)=1.39, 95% confidence interval (CI)=1.02-1.90, P=0.038]. The stratified analysis further indicated that boy carriers of the rs3848672 CC genotype had a higher risk of neuroblastoma, and all carriers had an increased risk of developing neuroblastoma of mediastinum origin. Moreover, the rs2297441 AA genotype increased neuroblastoma risk in girls and predisposed children to neuroblastoma arising from retroperitoneal. CONCLUSION: Our study indicated that the rs3848672 CC and rs2297441 AA genotypes of the RTEL1 gene are significantly associated with an increased risk of neuroblastoma in Chinese children in a gender- and site-specific manner. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12885-023-11642-3. BioMed Central 2023-11-24 /pmc/articles/PMC10675872/ /pubmed/38001404 http://dx.doi.org/10.1186/s12885-023-11642-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Zhang, Ting
Zhou, Chunlei
Guo, Jiejie
Chang, Jiamin
Wu, Haiyan
He, Jing
RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title_full RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title_fullStr RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title_full_unstemmed RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title_short RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children
title_sort rtel1 gene polymorphisms and neuroblastoma risk in chinese children
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10675872/
https://www.ncbi.nlm.nih.gov/pubmed/38001404
http://dx.doi.org/10.1186/s12885-023-11642-3
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