Functional Polymorphisms at ERCC1/XPF Genes Confer Neuroblastoma Risk in Chinese Children

EBioMedicine. 2018 Apr;30:113-119. doi: 10.1016/j.ebiom.2018.03.003. Epub 2018 Mar 7.


Variations in nucleotide excision repair pathway genes may predispose to initiation of cancers. However, polymorphisms of ERCC1/XPF genes and neuroblastoma risk have not been investigated before. To evaluate the relevance of polymorphisms of ERCC1/XPF genes in influencing neuroblastoma susceptibility, we genotyped four polymorphisms in ERCC1/XPF genes using a Chinese population of 393 cases and 812 controls. The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. Moreover, XPF rs2276466 was also associated with increased neuroblastoma risk (GG vs. CC: adjusted OR=1.66, 95% CI=1.02-2.71, P=0.043). In the combined analysis of ERCC1, we found that carriers with 2-3 risk genotypes were more likely to get risk of neuroblastoma, when compared to those with 0-1 risk genotype (adjusted OR=1.75; 95% CI=1.25-2.45, P=0.0012). Our study indicates that common genetic variations in ERCC1/XPF genes predispose to neuroblastoma risk, which needs to be further validated by ongoing efforts.

Keywords: ERCC1; Neuroblastoma; Polymorphism; Susceptibility; XPF.

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics*
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease*
  • Humans
  • Logistic Models
  • Neuroblastoma / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Risk Factors


  • DNA-Binding Proteins
  • RNA, Messenger
  • xeroderma pigmentosum group F protein
  • ERCC1 protein, human
  • Endonucleases