Details

Autor(en) / Beteiligte

• Chen, Yong‐Ping
• Liao, Yuxiang
• Yuan, Li
• Huang, Xiao‐Kai
• Ruan, Ji‐Chen
• Lin, Hui‐Ran
• Miao, Lei
• Zhuo, Zhen‐Jian

Titel

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

Ist Teil von

• Cancer innovation (Print), 2022-06, Vol.1 (1), p.70-79

Ort / Verlag

England: John Wiley & Sons, Inc

Erscheinungsjahr

2022

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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. 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.