Dataset Information

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

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.

SUBMITTER: Chen YP

PROVIDER: S-EPMC10686151 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Publications

Genetic variants in <i>XPD</i> gene and glioma susceptibility in Chinese children: A multicenter case-control study.

Chen Yong-Ping YP Liao Yuxiang Y Yuan Li L Huang Xiao-Kai XK Ruan Ji-Chen JC Lin Hui-Ran HR Miao Lei L Zhuo Zhen-Jian ZJ

Cancer innovation 20220630 1

<h4>Background</h4>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 b ...[more]

PMID: 38089451

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