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Open Access Highly Accessed Research article

Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis

Carolyn M Hutter1*, Martha L Slattery2, David J Duggan3, Jill Muehling3, Karen Curtin2, Li Hsu1, Shirley AA Beresford1, Aleksandar Rajkovic4, Gloria E Sarto5, James R Marshall6, Nazik Hammad7, Robert Wallace8, Karen W Makar1, Ross L Prentice1, Bette J Caan9, John D Potter1 and Ulrike Peters1

Author Affiliations

1 Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, USA

2 Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, USA

3 Genetic Basis of Human Disease Division, Translational Genomics Research Institute, Phoenix, USA

4 Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA

5 Department of Obstetrics and Gynecology, University of Wisconsin, Madison, USA

6 Department of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, USA

7 Department of Medical Oncology, Cancer Center of Southeastern Ontario, Queen's University, Kingston, Canada

8 Departments of Epidemiology and Internal Medicine, University of Iowa, College of Public Health, Iowa City, USA

9 Division of Research, Kaiser Permanente Medical Care Program, Oakland, USA

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BMC Cancer 2010, 10:670  doi:10.1186/1471-2407-10-670

Published: 4 December 2010

Abstract

Background

Genome-wide association studies and subsequent replication studies have shown that single nucleotide polymorphisms (SNPs) in the chromosomal region 8q24 are associated with colorectal cancer susceptibility.

Methods

We examined 11 SNP markers in the 8q24 region between 128.47 and 128.54 Mb, using a total of 1,987 colon cases and 2,339 controls who self-reported as white from two independent, well-characterized study populations. Analysis was performed separately within each study, and combined using random effects meta-analysis. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) and to test for effect modification by known colon cancer risk factors. We also performed a meta-analysis combining our results with previous studies.

Results

We observed evidence of association for four SNPs in low to high linkage disequilibrium (r2 ranging from 0.18 to 0.93) localized in a 16.2 kb region defined by rs10505477 and rs1056368. The combined results for our two studies of colon cancer showed an OR of 1.10 (95% CI: 1.01-1.20, Ptrend = 0.023), and a meta-analysis of our results with previously reported studies of colon and colorectal cancer strongly support the association for this SNP (combined OR for rs6983267 = 1.21, 95% CI: 1.18-1.24, p = 5.5 × 10-44). We did not observe any notable evidence of effect modification by known colon cancer risk factors, and risk did not differ significantly by tumor site or stage.

Conclusions

Our study confirms the association between polymorphisms on chromosome 8q24 and colon cancer risk and suggests that the susceptibility locus in region 8q24 is not strongly modified by various lifestyle, environmental, and demographic risk factors for colon cancer.