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Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck.

Publication ,  Journal Article
Ma, H; Yu, H; Liu, Z; Wang, L-E; Sturgis, EM; Wei, Q
Published in: Pharmacogenet Genomics
January 2012

OBJECTIVES: Xeroderma pigmentosum group G (XPG) protein is essential for the nucleotide excision repair system, and genetic variations in XPG/ERCC5 that affect DNA repair capacity may contribute to the risk of tobacco-induced cancers, including squamous cell carcinoma of the head and neck (SCCHN). We investigated the association between XPG/ERCC5 polymorphisms and risk of SCCHN. METHODS: We genotyped 12 tagging and potentially functional single nucleotide polymorphisms (SNPs) of XPG/ERCC5 in a case-control study of 1059 non-Hispanic white patients with SCCHN and 1066 cancer-free age- and sex-matched controls, and evaluated their associations with the risk of SCCHN. RESULTS: Multivariate logistic regression showed that only an intronic tagging SNP (rs4150351A/C) of XPG/ERCC5 was associated with a decreased risk of SCCHN (adjusted odds ratio=0.76, 95% confidence interval=0.62-0.92 for AC vs. AA; adjusted odds ratio=0.81, 95% confidence interval=0.67-0.98 for AC/CC vs. AA), but this association was nonsignificant after corrections by the permutation test (empirical P=0.105). In the genotype-phenotype correlation analysis using peripheral lymphocytes from 44 patients with SCCHN, we found that rs4150351 AC/CC was associated with a statistically significant increase in the XPG/ERCC5 mRNA expression. CONCLUSION: These findings suggest that genetic variation in XPG/ERCC5 may not affect the risk of SCCHN, although rs4150351 C variant genotypes were associated with an increased expression of XPG/ERCC5 mRNA and nonsignificantly decreased risk of SCCHN. Larger population-based and additional functional studies are warranted to validate our findings.

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Published In

Pharmacogenet Genomics

DOI

EISSN

1744-6880

Publication Date

January 2012

Volume

22

Issue

1

Start / End Page

50 / 57

Location

United States

Related Subject Headings

  • Transcription Factors
  • Smoking
  • Risk Factors
  • Polymorphism, Genetic
  • Pharmacology & Pharmacy
  • Nuclear Proteins
  • Neoplasm Staging
  • Middle Aged
  • Male
  • Logistic Models
 

Citation

APA
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MLA
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Ma, H., Yu, H., Liu, Z., Wang, L.-E., Sturgis, E. M., & Wei, Q. (2012). Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck. Pharmacogenet Genomics, 22(1), 50–57. https://doi.org/10.1097/FPC.0b013e32834e3cf6
Ma, Hongxia, Hongping Yu, Zhensheng Liu, Li-E Wang, Erich M. Sturgis, and Qingyi Wei. “Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck.Pharmacogenet Genomics 22, no. 1 (January 2012): 50–57. https://doi.org/10.1097/FPC.0b013e32834e3cf6.
Ma H, Yu H, Liu Z, Wang L-E, Sturgis EM, Wei Q. Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck. Pharmacogenet Genomics. 2012 Jan;22(1):50–7.
Ma, Hongxia, et al. “Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck.Pharmacogenet Genomics, vol. 22, no. 1, Jan. 2012, pp. 50–57. Pubmed, doi:10.1097/FPC.0b013e32834e3cf6.
Ma H, Yu H, Liu Z, Wang L-E, Sturgis EM, Wei Q. Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck. Pharmacogenet Genomics. 2012 Jan;22(1):50–57.

Published In

Pharmacogenet Genomics

DOI

EISSN

1744-6880

Publication Date

January 2012

Volume

22

Issue

1

Start / End Page

50 / 57

Location

United States

Related Subject Headings

  • Transcription Factors
  • Smoking
  • Risk Factors
  • Polymorphism, Genetic
  • Pharmacology & Pharmacy
  • Nuclear Proteins
  • Neoplasm Staging
  • Middle Aged
  • Male
  • Logistic Models