RTEL1 Gene Polymorphisms and Neuroblastoma Risk in Chinese Children

Overview

Journal BMC Cancer

Publisher Biomed Central

Specialty Oncology

Date 2023 Nov 24

PMID 38001404

Authors

Ting Zhang

Chunlei Zhou

Jiejie Guo

Jiamin Chang

Haiyan Wu

Jing He

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.

Tanshee R, Mahmud Z, Nabi A, Sayem M PLoS One. 2024; 19(9):e0309713.

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Neuroblastoma susceptibility and association of N7-methylguanosine modification gene polymorphisms: multi-center case-control study.

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PMID: 38871802 DOI: 10.1038/s41390-024-03318-w.

References

Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M . An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J Clin Immunol. 2020; 40(7):1010-1019. DOI: 10.1007/s10875-020-00829-z. View

Ward E, DeSantis C, Robbins A, Kohler B, Jemal A . Childhood and adolescent cancer statistics, 2014. CA Cancer J Clin. 2014; 64(2):83-103. DOI: 10.3322/caac.21219. View

Egan K, Thompson R, Nabors L, Olson J, Brat D, LaRocca R . Cancer susceptibility variants and the risk of adult glioma in a US case-control study. J Neurooncol. 2011; 104(2):535-42. PMC: 3138895. DOI: 10.1007/s11060-010-0506-0. View

Yan S, Xia R, Jin T, Ren H, Yang H, Li J . RTEL1 polymorphisms are associated with lung cancer risk in the Chinese Han population. Oncotarget. 2016; 7(43):70475-70480. PMC: 5342566. DOI: 10.18632/oncotarget.12297. View

Lin L, Deng C, Zhou C, Zhang X, Zhu J, Liu J . NSUN2 gene rs13181449 C>T polymorphism reduces neuroblastoma risk. Gene. 2022; 854:147120. DOI: 10.1016/j.gene.2022.147120. View

Jin T, Wang Y, Li G, Du S, Yang H, Geng T . Analysis of difference of association between polymorphisms in the XRCC5, RPA3 and RTEL1 genes and glioma, astrocytoma and glioblastoma. Am J Cancer Res. 2015; 5(7):2294-300. PMC: 4548341. View

Westerveld A, van Dalen E, Asogwa O, Koopman M, Papadakis V, Laureys G . Neuroblastoma survivors at risk for developing subsequent neoplasms: A systematic review. Cancer Treat Rev. 2022; 104:102355. DOI: 10.1016/j.ctrv.2022.102355. View

Bao P, Li K, Wu C, Huang Z, Wang C, Xiang Y . [Recent incidences and trends of childhood malignant solid tumors in Shanghai, 2002-2010]. Zhonghua Er Ke Za Zhi. 2013; 51(4):288-94. View

Muleris M, Almeida A, Gerbault-Seureau M, Malfoy B, Dutrillaux B . Identification of amplified DNA sequences in breast cancer and their organization within homogeneously staining regions. Genes Chromosomes Cancer. 1995; 14(3):155-63. DOI: 10.1002/gcc.2870140302. View

10.

Nakagawara A, Li Y, Izumi H, Muramori K, Inada H, Nishi M . Neuroblastoma. Jpn J Clin Oncol. 2018; 48(3):214-241. DOI: 10.1093/jjco/hyx176. View

11.

Mosse Y, Laudenslager M, Longo L, Cole K, Wood A, Attiyeh E . Identification of ALK as a major familial neuroblastoma predisposition gene. Nature. 2008; 455(7215):930-5. PMC: 2672043. DOI: 10.1038/nature07261. View

12.

Ivanova E, Sharma S, Brichkina A, Pfefferle P, Keber U, Pagenstecher A . DYRK3 contributes to differentiation and hypoxic control in neuroblastoma. Biochem Biophys Res Commun. 2021; 567:215-221. DOI: 10.1016/j.bbrc.2021.06.053. View

13.

Viana-Pereira M, Moreno D, Linhares P, Amorim J, Nabico R, Costa S . Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients. Mol Biol Rep. 2019; 47(2):877-886. DOI: 10.1007/s11033-019-05178-8. View

14.

Chang X, Liu Y, Glessner J, Hou C, Qu H, Nguyen K . Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma. J Natl Cancer Inst. 2022; 114(6):910-913. PMC: 9194614. DOI: 10.1093/jnci/djac012. View

15.

Cohn S, Pearson A, London W, Monclair T, Ambros P, Brodeur G . The International Neuroblastoma Risk Group (INRG) classification system: an INRG Task Force report. J Clin Oncol. 2008; 27(2):289-97. PMC: 2650388. DOI: 10.1200/JCO.2008.16.6785. View

16.

Brodeur G, Seeger R, Schwab M, Varmus H, Bishop J . Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science. 1984; 224(4653):1121-4. DOI: 10.1126/science.6719137. View

17.

Ding H, Schertzer M, Wu X, Gertsenstein M, Selig S, Kammori M . Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell. 2004; 117(7):873-86. DOI: 10.1016/j.cell.2004.05.026. View

18.

Shete S, Hosking F, Robertson L, Dobbins S, Sanson M, Malmer B . Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet. 2009; 41(8):899-904. PMC: 4501476. DOI: 10.1038/ng.407. View

19.

Zheng R, Peng X, Zeng H, Zhang S, Chen T, Wang H . Incidence, mortality and survival of childhood cancer in China during 2000-2010 period: A population-based study. Cancer Lett. 2015; 363(2):176-80. DOI: 10.1016/j.canlet.2015.04.021. View

20.

Diskin S, Hou C, Glessner J, Attiyeh E, Laudenslager M, Bosse K . Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 2009; 459(7249):987-91. PMC: 2755253. DOI: 10.1038/nature08035. View