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Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck.

Publication ,  Journal Article
An, J; Liu, Z; Hu, Z; Li, G; Wang, L-E; Sturgis, EM; El-Naggar, AK; Spitz, MR; Wei, Q
Published in: Cancer Epidemiol Biomarkers Prev
August 2007

Susceptibility to cancer has been associated with DNA repair capacity, a global reflection of all functional variants, most of which are relatively rare. Among the 1,098 single nucleotide polymorphisms (SNP) identified in the eight core nucleotide excision repair genes, only a few are common nonsynonymous or regulatory SNPs that are potentially functional. We tested the hypothesis that seven selected common nonsynonymous and regulatory variants in the nucleotide excision repair core genes are associated with risk of squamous cell carcinoma of the head and neck (SCCHN) in a hospital-based, case-control study of 829 SCCHN cases and 854 cancer-free controls. Assuming a recessive genetic model, we found that only carriers of the XPC 499Val/Val genotype had a significantly increased SCCHN risk (adjusted odds ratio, 1.65; 95% confidence interval, 1.16-2.36). In analysis of the joint effects, the number of observed risk genotypes was associated with SCCHN risk in a dose-response manner (P for trend = 0.017) and those who carried four or more risk genotypes exhibited a borderline significant 1.23-fold increased SCCHN risk (adjusted odds ratio, 1.23; 95% confidence interval, 0.99-1.53). In the stratified analysis, the dichotomized combined effect of the seven SNPs was slightly more evident among older subjects, women, and laryngeal cancer. These findings suggest that these potentially functional SNPs may collectively contribute to susceptibility to SCCHN. These findings need to be validated in larger, independent studies.

Duke Scholars

Published In

Cancer Epidemiol Biomarkers Prev

DOI

ISSN

1055-9965

Publication Date

August 2007

Volume

16

Issue

8

Start / End Page

1633 / 1638

Location

United States

Related Subject Headings

  • Valine
  • Transglutaminases
  • Sex Factors
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Laryngeal Neoplasms
  • Humans
  • Head and Neck Neoplasms
 

Citation

APA
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MLA
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An, J., Liu, Z., Hu, Z., Li, G., Wang, L.-E., Sturgis, E. M., … Wei, Q. (2007). Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev, 16(8), 1633–1638. https://doi.org/10.1158/1055-9965.EPI-07-0252
An, Jiaze, Zhensheng Liu, Zhibin Hu, Guojun Li, Li-E Wang, Erich M. Sturgis, Adel K. El-Naggar, Margaret R. Spitz, and Qingyi Wei. “Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck.Cancer Epidemiol Biomarkers Prev 16, no. 8 (August 2007): 1633–38. https://doi.org/10.1158/1055-9965.EPI-07-0252.
An J, Liu Z, Hu Z, Li G, Wang L-E, Sturgis EM, et al. Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev. 2007 Aug;16(8):1633–8.
An, Jiaze, et al. “Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck.Cancer Epidemiol Biomarkers Prev, vol. 16, no. 8, Aug. 2007, pp. 1633–38. Pubmed, doi:10.1158/1055-9965.EPI-07-0252.
An J, Liu Z, Hu Z, Li G, Wang L-E, Sturgis EM, El-Naggar AK, Spitz MR, Wei Q. Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev. 2007 Aug;16(8):1633–1638.

Published In

Cancer Epidemiol Biomarkers Prev

DOI

ISSN

1055-9965

Publication Date

August 2007

Volume

16

Issue

8

Start / End Page

1633 / 1638

Location

United States

Related Subject Headings

  • Valine
  • Transglutaminases
  • Sex Factors
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Laryngeal Neoplasms
  • Humans
  • Head and Neck Neoplasms