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

The Journal of Investigative Dermatology
Lee WhelessAnthony J Alberg

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.

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Citations

May 11, 2013·Pigment Cell & Melanoma Research·Salina M TorresMarianne Berwick
Oct 10, 2015·Future Oncology·Tiago Ribeiro Correia de SáJosé Manuel Lopes
Aug 5, 2014·Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals·Volha P RamaniukRoza I Goncharova
Dec 3, 2013·Asian Pacific Journal of Cancer Prevention : APJCP·Bo YangFeng Liu
Mar 16, 2013·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Yuhao DongWeiyuan Ma

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Methods Mentioned

BETA
genotyping
chip

Software Mentioned

PLINK
R
SAS

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