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Original Article | Open Access

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

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
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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.

Graphical Abstract

The multi‐center case‐control study illuminated the association between XPD single nucleotide polymorphisms and glioma in Chinese children, with negative outcoming in single‐locus analysis and combined effect analysis. However, the stratified analysis uncovered either XPD rs13181 TG/GG genotypes by comparison with TT genotypes, or carriers with 2‐3 genotypes when compared to 0‐1 genotypes, escalating glioma risk in the subgroup of astrocytic tumors.

Keywords

XPD single polymorphism nucleotidepediatric gliomasusceptibility

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References

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Cancer Innovation
Volume 1 Issue 1,
June 2022
Pages 70-79
DOI: 10.1002/cai2.6

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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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Received: 16 March 2022
Accepted: 19 April 2022
Published: 30 June 2022
© 2022 The Authors.

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.