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Cancer Innovation 2022, 1(1): 70-79 https://doi.org/10.1002/cai2.6
Original Article | Open Access | Issue | Published: 30 June 2022

Genetic variants in XPD gene and glioma susceptibility in Chinese children: A multicenter case–control study

Show Author's Information Yong‐Ping Chen1,  Yuxiang Liao2,  Li Yuan3,  Xiao‐Kai Huang4,  Ji‐Chen Ruan4,  Hui‐Ran Lin5( ),  Lei Miao1( ),  Zhen‐Jian Zhuo1,6 ( )
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China
Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China
Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China
Department of Hematology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China
Faculty of Medicine, Macau University of Science and Technology, Macau, China
Laboratory Animal Center, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China
Keywords:
XPD , single polymorphism nucleotide, pediatric glioma, susceptibility
Cite this article:
Chen Y, Liao Y, Yuan L, et al. Genetic variants in XPD gene and glioma susceptibility in Chinese children: A multicenter case–control study. Cancer Innovation, 2022, 1(1): 70-79. https://doi.org/10.1002/cai2.6
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Abstract Full text Electronic supplementary material About this article
Background

Glioma is one of the central nervous system (CNS) tumors in children, accounting for 80% of malignant brain tumors. Nucleotide excision repair (NER) is a vital pathway during DNA damage repair progression. Xeroderma pigmentosum group D (XPD) or excision repair cross‐complementing group 2 (ERCC2) is a critical factor in the NER pathway, playing an indispensable role in the DNA repair process. Therefore, the genetic variants in XPD may be associated with carcinogenesis induced by defects in DNA repair.

Methods

We are the first to conduct a multi‐center case‐control study to investigate the correlation between XPD gene polymorphisms and pediatric glioma risk. We chose three single nucleotide polymorphisms and genotyped them using the TaqMan assay.

Results

Although there is no significant association of these genetic variations with glioma susceptibility, the stratified analysis revealed that in the subtype of astrocytic tumors, the rs13181 TG/GG genotype enhanced glioma risk than the TT genotype, and carriers with two to three genotypes also elevated the tumor risk than 0‐1 genotypes.

Conclusion

In conclusion, our findings provided an insight into the impact of XPD genetic variants on glioma risk.


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Abstract
Full text
Outline
Electronic supplementary material
About this article

Genetic variants in XPD gene and glioma susceptibility in Chinese children: A multicenter case–control study

Show Author's information Yong‐Ping Chen1, Yuxiang Liao2, Li Yuan3, Xiao‐Kai Huang4, Ji‐Chen Ruan4, Hui‐Ran Lin5( ), Lei Miao1( ), Zhen‐Jian Zhuo1,6 ( )
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China
Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China
Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China
Department of Hematology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China
Faculty of Medicine, Macau University of Science and Technology, Macau, China
Laboratory Animal Center, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China

Abstract

Background

Glioma is one of the central nervous system (CNS) tumors in children, accounting for 80% of malignant brain tumors. Nucleotide excision repair (NER) is a vital pathway during DNA damage repair progression. Xeroderma pigmentosum group D (XPD) or excision repair cross‐complementing group 2 (ERCC2) is a critical factor in the NER pathway, playing an indispensable role in the DNA repair process. Therefore, the genetic variants in XPD may be associated with carcinogenesis induced by defects in DNA repair.

Methods

We are the first to conduct a multi‐center case‐control study to investigate the correlation between XPD gene polymorphisms and pediatric glioma risk. We chose three single nucleotide polymorphisms and genotyped them using the TaqMan assay.

Results

Although there is no significant association of these genetic variations with glioma susceptibility, the stratified analysis revealed that in the subtype of astrocytic tumors, the rs13181 TG/GG genotype enhanced glioma risk than the TT genotype, and carriers with two to three genotypes also elevated the tumor risk than 0‐1 genotypes.

Conclusion

In conclusion, our findings provided an insight into the impact of XPD genetic variants on glioma risk.

Keywords: XPD , single polymorphism nucleotide, pediatric glioma, susceptibility

References(40)

Ostrom QT, Cioffi G, Waite K, Kruchko C, Barnholtz‐Sloan JS. CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2014‐2018. Neuro Oncol. 2021;23(Suppl 3):iii1–105.
DOI Google Scholar
Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella‐Branger D, Cavenee WK, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol. 2016;131(6):803–20.
DOI Google Scholar
Miller KD, Ostrom QT, Kruchko C, Patil N, Tihan T, Cioffi G, et al. Brain and other central nervous system tumor statistics, 2021. CA Cancer J Clin. 2021;71(5):381–406.
DOI Google Scholar
Sturm D, Pfister SM, Jones DTW. Pediatric gliomas: current concepts on diagnosis, biology, and clinical management. J Clin Oncol. 2017;35(21):2370–7.
DOI Google Scholar
Touat M, Li YY, Boynton AN, Spurr LF, Iorgulescu JB, Bohrson CL, et al. Mechanisms and therapeutic implications of hypermutation in gliomas. Nature. 2020;580(7804):517–23.
DOI Google Scholar
Armstrong GT, Liu Q, Yasui Y, Huang S, Ness KK, Leisenring W, et al. Long‐term outcomes among adult survivors of childhood central nervous system malignancies in the childhood cancer survivor study. J Natl Cancer Inst. 2009;101(13):946–58.
DOI Google Scholar
Knijnenburg TA, Wang L, Zimmermann MT, Chambwe N, Gao GF, Cherniack AD, et al. Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas. Cell Rep. 2018;23(1):239–54.e6.
DOI Google Scholar
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH. Understanding nucleotide excision repair and its roles in cancer and ageing. Nat Rev Mol Cell Biol. 2014;15(7):465–81.
DOI Google Scholar
Cleaver JE. Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J Dermatol Sci. 2000;23(1):1–11.
DOI Google Scholar
Sung P, Bailly V, Weber C, Thompson LH, Prakash L, Prakash S. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature. 1993;365(6449):852–5.
DOI Google Scholar
Fan L, Fuss JO, Cheng QJ, Arvai AS, Hammel M, Roberts VA, et al. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. Cell. 2008;133(5):789–800.
DOI Google Scholar
Liu J, Fang H, Chi Z, Wu Z, Wei D, Mo D, et al. XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage. Nucleic Acids Res. 2015;43(11):5476–88.
DOI Google Scholar
Liu H, Rudolf J, Johnson KA, McMahon SA, Oke M, Carter L, et al. Structure of the DNA repair helicase XPD. Cell. 2008;133(5):801–12.
DOI Google Scholar
He J, Shi TY, Zhu ML, Wang MY, Li QX, Wei QY. Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta‐analysis. Int J Cancer. 2013;133(8):1765–75.
DOI Google Scholar
Mei C, Hou M, Guo S, Hua F, Zheng D, Xu F, et al. Polymorphisms in DNA repair genes of XRCC1, XPA, XPC, XPD and associations with lung cancer risk in Chinese people. Thorac Cancer. 2014;5(3):232–42.
DOI Google Scholar
McWilliams RR, Bamlet WR, Cunningham JM, Goode EL, de Andrade M, Boardman LA, et al. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. Cancer Res. 2008;68(12):4928–35.
DOI Google Scholar
Melin BS, Barnholtz‐Sloan JS, Wrensch MR, Johansen C, Il'yasova D, Kinnersley B, et al. Genome‐wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non‐glioblastoma tumors. Nat Genet. 2017;49(5):789–94.
DOI Google Scholar
Savage N. Searching for the roots of brain cancer. Nature. 2018;561(7724):S50–1.
DOI Google Scholar
Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella‐Branger D, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol. 2021;23(8):1231–51.
DOI Google Scholar
Gatzidou E, Michailidi C, Tseleni‐Balafouta S, Theocharis S. An epitome of DNA repair related genes and mechanisms in thyroid carcinoma. Cancer Lett. 2010;290(2):139–47.
DOI Google Scholar
Gillet LC, Schärer OD. Molecular mechanisms of mammalian global genome nucleotide excision repair. Chem Rev. 2006;106(2):253–76.
DOI Google Scholar
Li YK, Xu Q, Sun LP, Gong YH, Jing JJ, Xing CZ, et al. Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer. World J Gastroenterol. 2020;26(3):307–23.
DOI Google Scholar
Yurchenko AA, Padioleau I, Matkarimov BT, Soulier J, Sarasin A, Nikolaev S. XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature. Nat Commun. 2020;11(1):5834.
DOI Google Scholar
Kamileri I, Karakasilioti I, Garinis GA. Nucleotide excision repair: new tricks with old bricks. Trends Genet. 2012;28(11):566–73.
DOI Google Scholar
Marini F, Nardo T, Giannattasio M, Minuzzo M, Stefanini M, Plevani P, et al. DNA nucleotide excision repair‐dependent signaling to checkpoint activation. Proc Natl Acad Sci USA. 2006;103(46):17325–30.
DOI Google Scholar
Houten BV, Kuper J, Kisker C. Role of XPD in cellular functions: to TFIIH and beyond. DNA Repair (Amst). 2016;44:136–42.
DOI Google Scholar
Chen H, Shao C, Shi H, Mu Y, Sai K, Chen Z. Single nucleotide polymorphisms and expression of ERCC1 and ERCC2 vis‐à‐vis chemotherapy drug cytotoxicity in human glioma. J Neurooncol. 2007;82(3):257–62.
DOI Google Scholar
Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, et al. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res. 2001;61(4):1354–7.
Google Scholar
Liao SG, Liu L, Wang Y, Zhang YY, Wang YJ. XPD Asp312Asn polymorphism is a risk factor for prostate cancer. J Cancer Res Clin Oncol. 2012;138(10):1689–95.
DOI Google Scholar
Bănescu C, Trifa AP, Demian S, Benedek Lazar E, Dima D, Duicu C, et al. Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia. BioMed Res Int. 2014;2014:213790.
DOI Google Scholar
Coin F, Bergmann E, Tremeau‐Bravard A, Egly JM. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J. 1999;18(5):1357–66.
DOI Google Scholar
Wu H, Li S, Hu X, Qin W, Wang Y, Sun T, et al. Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta‐analysis. J Cancer. 2019;10(16):3593–607.
DOI Google Scholar
Smolarz B, Bryś M, Forma E, Zadrożny M, Bieńkiewicz J, Romanowicz H. Data on single nucleotide polymorphism of DNA repair genes and breast cancer risk from Poland. Pathol Oncol Res. 2019;25(4):1311–7.
DOI Google Scholar
Zhuo Z, Miao L, Hua W, Chen H, Yang Z, Li Y, et al. Genetic variations in nucleotide excision repair pathway genes and hepatoblastoma susceptibility. Int J Cancer. 2021;149(9):1649–58.
DOI Google Scholar
Zhou C, Wang Y, He L, Zhu J, Li J, Tang Y, et al. Association between NER pathway gene polymorphisms and neuroblastoma risk in an eastern Chinese population. Mol Ther Oncolytics. 2021;20:3–11.
DOI Google Scholar
Zhang H, Li Y, Guo S, Wang Y, Wang H, Lu D, et al. Effect of ERCC2 rs13181 and rs1799793 polymorphisms and environmental factors on the prognosis of patients with lung cancer. Am J Transl Res. 2020;12(10):6941–53.
Google Scholar
Adel Fahmideh M, Schwartzbaum J, Frumento P, Feychting M. Association between DNA repair gene polymorphisms and risk of glioma: a systematic review and meta‐analysis. Neuro Oncol. 2014;16(6):807–14.
DOI Google Scholar
Qian T, Zhang B, Qian C, He Y, Li Y. Association between common polymorphisms in ERCC gene and glioma risk: a meta‐analysis of 15 studies. Medicine (Baltimore). 2017;96(20):e6832.
DOI Google Scholar
Huang LM, Shi X, Yan DF, Zheng M, Deng YJ, Zeng WC, et al. Association between ERCC2 polymorphisms and glioma risk: a meta‐analysis. Asian Pac J Cancer Prev. 2014;15(11):4417–22.
DOI Google Scholar
Geng P, Ou J, Li J, Liao Y, Wang N, Xie G, et al. A comprehensive analysis of influence ERCC polymorphisms confer on the development of brain tumors. Mol Neurobiol. 2016;53(4):2705–14.
DOI Google Scholar
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Publication history

Received: 16 March 2022
Accepted: 19 April 2022
Published: 30 June 2022
Issue date: June 2022

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© 2022 The Authors.

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This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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