Association of common genetic variants in SMAD7 and risk of colon cancer

Cheryl L. Thompson, Sarah J. Plummer, Louise S. Acheson, Thomas C. Tucker, Graham Casey, Li Li

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. Here, we replicated the association of rs4464148 with colon cancer in a population-based case-control study (561 cases and 721 controls). Compared with the TT genotype, those with CT and CC had an adjusted odds ratio (OR) and 95% confidence interval of 1.06 (0.82-1.38) and 1.86 (1.17-2.96), respectively (Ptrend = 0.04). However, stratified analyses revealed that this association was limited to women only [OR = 1.25 (0.88-1.78) for CT and OR = 2.76 (1.53-4.98) for CC, Ptrend = 0.002, Pinteraction = 0.08], which was not noted in any GWAS. Similarly, we found evidence for association with both rs4939827 and rs12953717 in women only (P = 0.007 in dominant rs4939827 model and P = 0.015 in recessive rs12953717 model), but not in men (P > 0.05) and evidence of an interaction with gender (P = 0.015 for rs4939827 and P = 0.061 for rs12953717). Similar effect modification was found in haplotype analyses. Our data add evidence supporting these genetic variants as markers predisposing to colon cancer, specifically in women.

Original languageEnglish
Pages (from-to)982-986
Number of pages5
Issue number6
StatePublished - 2009

Bibliographical note

Funding Information:
National Cancer Institute (U54 CA116867, K22 CA120545, R25T CA094186); Damon-Runyon Cancer Research Foundation, Clinical Investigator Award CI-8; U.S. Public Health Service Resource, National Center for Research Resources (RR03655).

ASJC Scopus subject areas

  • Cancer Research


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