CHOP 5'UTR-c.279T>C and +nt30C>T variants are not associated with overweight condition or with tumors/cancer in Italians – a case-control study

<p>Abstract</p> <p>Background</p> <p>Type 2 diabetes (T2D) is associated with obesity and has been shown recently to be associated with tumors/cancer. <it>HNF1-beta </it>and <it>JAZF1 </it>genes are associated with T2D and prostate cancer. We have previously shown that <it>CHOP </it>5'UTR-c.279T>C and +nt30C>T haplotype variants contribute to T2D. CHOP deficiency causes obesity in mice, thus <it>CHOP </it>gene variants may contribute to human obesity. Furthermore, <it>CHOP </it>mediates apoptosis and is implicated in cancer pathogenesis. Hence, we aimed at identifying any potential association of <it>CHOP </it>5'UTR-c.279T>C and +nt30C>T genotypes and corresponding haplotypes with overweight condition/pre-obesity and tumors/cancer in an Italian dataset.</p> <p>Methods</p> <p>We recruited from Italy 45 overweight subjects (body mass index (BMI) ≥ 25) and 44 control subjects (BMI < 25) as well as 54 cases with at least one cancer or at least one tumor and 43 control subjects without tumors/cancer from the general population. We excluded allelic departure from Hardy-Weinberg equilibrium in cases and control subjects, separately.</p> <p>Results</p> <p>We assessed the power to detect risk odds ratios by association tests in our datasets. We tested the hypothesis of association of CHOP 5'UTR-c.279T>C and +nt30C>T genotypes and haplotypes with tumors/cancer and, separately, with overweight condition. Both associations were not significant.</p> <p>Conclusion</p> <p>From our study, we may conclude that <it>CHOP </it>5'UTR-c.279T>C and +nt30C>T genotypes and corresponding haplotypes are not associated with tumors/cancer and pre-obesity. However, more studies are warranted to establish the role of <it>CHOP </it>variants in tumor/cancer predisposition and in overweight condition.</p