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Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations.

Publication ,  Journal Article
Zhu, M-L; He, J; Wang, M; Sun, M-H; Jin, L; Wang, X; Yang, Y-J; Wang, J-C; Zheng, L; Xiang, J-Q; Wei, Q-Y
Published in: Sci Rep
September 11, 2014

ERCC2 is indispensable for nucleotide excision repair pathway, and its functional polymorphisms may be associated with cancer risk. In a large case-control study of 1126 esophageal squamous cell carcinomas (ESCC) patients and 1131 controls, we genotyped two SNPs in ERCC2 (rs238406 G > T and rs13181 T > G) and assessed their associations with ESCC risk. We found a significantly elevated ESCC risk associated with the rs238406 T variant genotypes (adjusted OR = 1.30 and 1.24, 95% CI = 1.02-1.66 and 1.03-1.49 for TG and TG/TT, respectively, compared with GG), particularly in the subgroup of those smoked more than 16 pack-years. Multivariate logistic regression analysis suggested a possible multiplicative gene-environment interaction between rs238406 genotypes and smoking (Pinteraction = 0.026) on ESCC risk. Although no significant risk associations were observed for rs13181, further mini meta-analysis with our and 18 other published studies of 5,012 cases and 8,238 controls found evidence of an association between the rs13181 variant G allele and esophageal cancer risk (TG/GG vs. TT, OR = 1.17; 95% CI = 1.02-1.33). Interestingly, we consistently found a significant correlation between variant genotypes of these two SNPs and ERCC2 mRNA expression. These findings suggest that potentially functional SNPs in ERCC2 may contribute to ESCC risk.

Duke Scholars

Published In

Sci Rep

DOI

EISSN

2045-2322

Publication Date

September 11, 2014

Volume

4

Start / End Page

6281

Location

England

Related Subject Headings

  • Xeroderma Pigmentosum Group D Protein
  • Smoking
  • Risk
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Phenylalanine Hydroxylase
  • Middle Aged
  • Male
  • Humans
  • Genotype
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Zhu, M.-L., He, J., Wang, M., Sun, M.-H., Jin, L., Wang, X., … Wei, Q.-Y. (2014). Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations. Sci Rep, 4, 6281. https://doi.org/10.1038/srep06281
Zhu, Mei-Ling, Jing He, MengYun Wang, Meng-Hong Sun, Li Jin, Xiaofeng Wang, Ya-Jun Yang, et al. “Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations.Sci Rep 4 (September 11, 2014): 6281. https://doi.org/10.1038/srep06281.
Zhu, Mei-Ling, et al. “Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations.Sci Rep, vol. 4, Sept. 2014, p. 6281. Pubmed, doi:10.1038/srep06281.
Zhu M-L, He J, Wang M, Sun M-H, Jin L, Wang X, Yang Y-J, Wang J-C, Zheng L, Xiang J-Q, Wei Q-Y. Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinoma in Chinese populations. Sci Rep. 2014 Sep 11;4:6281.

Published In

Sci Rep

DOI

EISSN

2045-2322

Publication Date

September 11, 2014

Volume

4

Start / End Page

6281

Location

England

Related Subject Headings

  • Xeroderma Pigmentosum Group D Protein
  • Smoking
  • Risk
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Phenylalanine Hydroxylase
  • Middle Aged
  • Male
  • Humans
  • Genotype