A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer

Lee Wheless, Emily Kistner-Griffin, Timothy J. Jorgensen, Ingo Ruczinski, Yvette Berthier-Schaad, Bailey Kessing, Judith Hoffman-Bolton, Lesley Francis, Yin Yao Shugart, Paul T. Strickland, W. H.Linda Kao, Rhoda M. Alani, Michael W. Smith, Anthony J. Alberg

Research output: Contribution to journalArticlepeer-review

Abstract

Nucleotide excision repair (NER) is responsible for protecting DNA in skin cells against UVR-induced damage. Using a candidate pathway approach, a matched case-control study nested within a prospective, community-based cohort was carried out to test the hypothesis that single-nucleotide polymorphisms (SNPs) in NER genes are associated with susceptibility to non-melanoma skin cancer (NMSC). Histologically confirmed cases of NMSC (n=900) were matched to controls (n=900) on the basis of age, gender, and skin type. Associations were measured between NMSC and 221 SNPs in 26 NER genes. Using the additive model, two tightly linked functional SNPs in ERCC6 were significantly associated with increased risk of NMSC: rs2228527 (odds ratio (OR) 1.57, 95% confidence interval (CI) 1.20-2.05) and rs2228529 (OR 1.57, 95% CI 1.20-2.05). These associations were confined to basal cell carcinoma (BCC) of the skin (rs2228529, OR 1.78, 95% CI 1.30-2.44; rs2228527, OR 1.78, 95% CI 1.31-2.43). These hypothesis-generating findings suggest that functional variants in ERCC6 may be associated with an increased risk of NMSC that may be specific to BCC.

Original languageEnglish (US)
Pages (from-to)1354-1362
Number of pages9
JournalJournal of Investigative Dermatology
Volume132
Issue number5
DOIs
StatePublished - May 2012

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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