Journal Article

Association of <i>vitamin D receptor</i> 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 and Li Li

in Carcinogenesis

Volume 29, issue 9, pages 1788-1793
Published in print September 2008 | ISSN: 0143-3334
Published online July 2008 | e-ISSN: 1460-2180 | DOI:
Association of vitamin D receptor gene variants, adiposity and colon cancer

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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-2FokI A-T haplotype and the FokI-TaqI T-G haplotype. The three-SNP Cdx-2FokITaqI (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.

Journal Article.  5305 words. 

Subjects: Clinical Cytogenetics and Molecular Genetics

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