A RecQ Protein-like 5 Haplotype is Associated With Colon Cancer

Heather M. Ochs-Balcom, Cheryl L. Thompson, Sarah Plummer, Guangbin Luo, Thomas C. Tucker, Graham Casey, Li Li

Abstract


Background: Emerging murine model data suggests RecQ protein-like 5 (RECQL5) is a tumor suppressor gene. The goal of our study was to test whether RECQL5 gene variants are associated with colon cancer susceptibility.

Methods: We examined the association of two haplotype-tagging SNPs in RECQL5 and colon cancer in a population-based study of 390 colon cancer cases and 464 population controls.

Results: While both crude and covariate-adjusted single SNP analyses were only suggestive for an association with borderline significance (p = 0.07), haplotype analysis shows that individuals carrying the T-G haplotype (rs820196 common allele and rs4789223 minor allele) were at significantly increased risk for colon cancer (OR = 1.34, 95% CI = 1.02-1.76, p = 0.05). Adjustment for age, sex, body mass index, non-steroidal anti-inflammatory use and family history of colon cancer did not alter the results.

Conclusions: These results suggest that a haplotype harboring the minor allele of rs4789223 is associated with colon cancer risk. Further study of RECQL5 as a colon cancer susceptibility gene is warranted, particularly with respect to variants in linkage disequilibrium with rs4789223.


doi:10.4021/gr2010.06.214w


Keywords


RECQL5; Colon cancer; Haplotype; Single Nucleotide Polymorphism

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