Nucleotide excision repair gene polymorphisms and hepatoblastoma susceptibility in Eastern Chinese children: A five-center case-control study

• Published in: Chinese journal of cancer research Vol. 36; no. 2; pp. 298 - 305
• Main Authors: Yin, Huimin, Wang, Xianqiang, Zhang, Shouhua, He, Shaohua, Zhang, Wenli, Lu, Hongting, Wang, Yizhen, He, Jing, Zhou, Chunlei
• Format: Journal Article
• Language: English
• Published: China 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 510623,China%Department of Pediatric Surgery,Senior Department of Pediatrics,the Seventh Center of Chinese People's Liberation Army(PLA)General Hospital,Beijing 100000,China%Department of General Surgery,Jiangxi Provincial Children's Hospital,Nanchang 330006,China%Department of Pediatric Surgery,Shengli Clinical Medical College of Fujian Medical University,Fuzhou 350001,China%Department of Pediatric Surgery,Qingdao Women and Children's Hospital,Qingdao 266000,China%Department of Pathology,Anhui Provincial Children's Hospital,Hefei 230051,China%Department of Pathology,Children's Hospital of Nanjing Medical University,Nanjing 210008,China 30.06.2024; Chinese Journal of Cancer Research Co
• Subjects: Original; hepatoblastoma; Nucleotide excision repair; susceptibility; polymorphisms
• ISSN: 1000-9604; 1993-0631
• DOI: 10.21147/j.issn.1000-9604.2024.03.06

Nucleotide excision repair (NER) plays a vital role in maintaining genome stability, and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation. This study aimed to evaluate the relationship between NER gene polymorphisms and the risk of hepatoblastoma in Eastern Chinese Han children. In this five-center case-control study, we enrolled 966 subjects from East China (193 hepatoblastoma patients and 773 healthy controls). The TaqMan method was used to genotype 19 single nucleotide polymorphisms (SNPs) in NER pathway genes, including , , , , , and . Then, multivariate logistic regression analysis was performed, and odds ratios (ORs) and 95% confidence intervals (95% CIs) were utilized to assess the strength of associations. Three SNPs were related to hepatoblastoma risk. rs2229090 and rs3810366 significantly contributed to hepatoblastoma risk according to the dominant model (adjusted OR=1.49, 95% CI=1.07-2.08, P=0.019; adjusted OR=1.66, 95% CI=1.12-2.45, P=0.012, respectively). However, rs238406 conferred a significantly decreased risk of hepatoblastoma under the dominant model (adjusted OR=0.68, 95% CI=0.49-0.95; P=0.024). Stratified analysis demonstrated that these significant associations were more prominent in certain subgroups. Moreover, there was evidence of functional implications of these significant SNPs suggested by online expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs) analysis. In summary, NER pathway gene polymorphisms ( rs2229090, rs3810366, and rs238406) are significantly associated with hepatoblastoma risk, and further research is required to verify these findings.