Association of vitamin D receptor gene variants, adiposity and colon cancer

Heather M. Ochs-Balcom, Mine S. Cicek, Cheryl L. Thompson, Thomas C. Tucker, Robert C. Elston, Sarah J. Plummer, Graham Casey, Li Li

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


Vitamin D receptor (VDR) gene variants have been variably associated with risk of colon cancer in epidemiologic studies. We sought to further clarify the relationship between colon cancer and three single-nucleotide polymorphisms (SNPs) in the VDR gene (Cdx-2, FokI and TaqI) in a population-based case-control study of 250 incident cases and 246 controls. Colon cancer cases were more frequently homozygous for the Cdx-2 A allele (9.2 versus 4.1%, P = 0.06). Cdx-2 AA homozygotes were at increased risk with an unadjusted odds ratio (OR) of 2.47 [95% confidence interval (CI): 1.13-5.37, P = 0.022]; adjustment for age, sex, body mass index (BMI), non-steroidal anti-inflammatory use and family history of colorectal cancer yielded an OR of 2.27 (CI: 0.95-5.41, P = 0.065). Carriers of the FokI TT genotype were also at increased risk with an adjusted OR of 1.87 (CI: 1.03-3.38, P = 0.038). Haplotype analyses showed significant increased colon cancer risk for carriers of the Cdx-2 -FokI A-T haplotype and the FokI-TaqI T-G haplotype. The three-SNP Cdx-2 - FokI - TaqI (A-T-G) haplotype showed a similar association with an adjusted OR of 3.63 (CI: 1.01-13.07). A strong positive association was observed for the Cdx-2 variant among individuals with low BMI or low waist circumference. Our results suggest that genetic variation at the VDR locus, in particular Cdx-2 and FokI SNPs, may influence colon cancer risk and these associations may be modified by adiposity.

Original languageEnglish
Pages (from-to)1788-1793
Number of pages6
Issue number9
StatePublished - 2008

Bibliographical note

Funding Information:
Damon Runyon Cancer Research Foundation Clinical Investigator Award (CI-8) to L.L.; Case Center for Transdisciplinary Research on Energetics and Cancer (U54 CA-116867-01) to L.L.; National Cancer Institute K22 Award (K22 CA120545-01) to L.L.; Cancer Center Support Grant (P30CAD43703 to R.C.E., R25 CA094186 to H.M.O.-B.); U.S. Public Health Service Resource Grant (RR03655) from the National Center for Research Resources to program package S.A.G.E.

ASJC Scopus subject areas

  • Cancer Research


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