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A RecQ Protein-like 5 Haplotype is Associated With Colon Cancer
Heather M Ochs-Balcom1, Cheryl L Thompson2, Sarah Plummer3
1Department of Social and Preventive Medicine, State University of New York at Buffalo, Buffalo, New York, 14214, USA; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, 44106, USA.
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.
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