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Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma.

Publication ,  Journal Article
Hao, B; Wang, H; Zhou, K; Li, Y; Chen, X; Zhou, G; Zhu, Y; Miao, X; Tan, W; Wei, Q; Lin, D; He, F
Published in: Cancer Res
June 15, 2004

The etiology of esophageal squamous cell carcinoma (ESCC) has been shown to be associated with genetic and certain environmental factors that produce DNA damage. Base excision repair (BER) genes are responsible for repair of DNA damage caused by reactive oxygen species and other electrophiles and therefore are good candidate susceptibility genes for ESCC. We first screened eight BER genes for new and potential functional polymorphisms by resequencing 27 DNA samples. We then identified and genotyped for important tagging single nucleotide polymorphisms (SNPs) in a case-control study of 419 patients with newly diagnosed esophageal cancer and 480 healthy controls by frequency matching on age and sex. The association between genotypes and ESCC risk was estimated by unconditional multivariate logistic regression analysis, and stepwise regression procedure was used for constructing the final logistic regression model. We identified 129 SNPs in the eight BER genes, including 18 SNPs that cause amino acid changes. In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. The adjusted odd ratios were 1.25 [95% confidence interval (CI) 1.02-1.53] for the ADPRT 762Ala allele, 1.25 (95% CI 1.02-1.53) for the MBD4 346 Lys allele, 0.78 (95% CI 0.63-0.97) for the LIG3 3704G allele, and 1.38 (95% CI 1.01-1.89) for the XRCC1-77C allele. In addition, we observed a significant gene-gene interaction between XRCC1 Gln399Arg and ADPRT Val762Ala. The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.

Duke Scholars

Published In

Cancer Res

DOI

ISSN

0008-5472

Publication Date

June 15, 2004

Volume

64

Issue

12

Start / End Page

4378 / 4384

Location

United States

Related Subject Headings

  • X-ray Repair Cross Complementing Protein 1
  • Smoking
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Humans
  • Haplotypes
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Esophageal Neoplasms
  • DNA-Binding Proteins
 

Citation

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MLA
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Hao, B., Wang, H., Zhou, K., Li, Y., Chen, X., Zhou, G., … He, F. (2004). Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res, 64(12), 4378–4384. https://doi.org/10.1158/0008-5472.CAN-04-0372
Hao, Bingtao, Haijian Wang, Kaixin Zhou, Yi Li, Xiaoping Chen, Gangqiao Zhou, Yunping Zhu, et al. “Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma.Cancer Res 64, no. 12 (June 15, 2004): 4378–84. https://doi.org/10.1158/0008-5472.CAN-04-0372.
Hao B, Wang H, Zhou K, Li Y, Chen X, Zhou G, et al. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res. 2004 Jun 15;64(12):4378–84.
Hao, Bingtao, et al. “Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma.Cancer Res, vol. 64, no. 12, June 2004, pp. 4378–84. Pubmed, doi:10.1158/0008-5472.CAN-04-0372.
Hao B, Wang H, Zhou K, Li Y, Chen X, Zhou G, Zhu Y, Miao X, Tan W, Wei Q, Lin D, He F. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res. 2004 Jun 15;64(12):4378–4384.

Published In

Cancer Res

DOI

ISSN

0008-5472

Publication Date

June 15, 2004

Volume

64

Issue

12

Start / End Page

4378 / 4384

Location

United States

Related Subject Headings

  • X-ray Repair Cross Complementing Protein 1
  • Smoking
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Humans
  • Haplotypes
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Esophageal Neoplasms
  • DNA-Binding Proteins