TY - JOUR
T1 - A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer
AU - Wheless, Lee
AU - Kistner-Griffin, Emily
AU - Jorgensen, Timothy J.
AU - Ruczinski, Ingo
AU - Berthier-Schaad, Yvette
AU - Kessing, Bailey
AU - Hoffman-Bolton, Judith
AU - Francis, Lesley
AU - Shugart, Yin Yao
AU - Strickland, Paul T.
AU - Kao, W. H.Linda
AU - Alani, Rhoda M.
AU - Smith, Michael W.
AU - Alberg, Anthony J.
N1 - Funding Information:
This research was made possible by funding from the National Cancer Institute (R01 CA105069), NIH/NCCR (TL1 RR029881), and the Abney Family Foundation. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. The project described in this article has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract N01-CO-12400.
PY - 2012/5
Y1 - 2012/5
N2 - 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.
AB - 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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U2 - 10.1038/jid.2012.4
DO - 10.1038/jid.2012.4
M3 - Article
C2 - 22336945
AN - SCOPUS:84862815194
SN - 0022-202X
VL - 132
SP - 1354
EP - 1362
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 5
ER -