Association of a novel genetic variant in RP11-650L12.2 with risk of colorectal cancer in Han Chinese population.

BACKGROUND

This study aimed to investigate the associations of selected polymorphisms in RP11-650L12.2 with the risk of colorectal cancer (CRC) in a Chinese population.

METHODS

A total of 821 CRC cases (test set: 320, validation set: 501) and 857 healthy controls (test set: 319, validation set: 538) were enrolled in this study. Demographic characteristics and lifestyle information were collected by a validated questionnaire. A sample of 5ml venous blood was collected from each subject for DNA isolation, and the selected polymorphisms (rs144182521, rs514743, rs76071148, rs149941240) were genotyped by MassArray technique.

RESULTS

The rs149941240 polymorphism was significantly associated with the risk of CRC, with ORs of 1.50 (95% CI: 1.15-1.96) by co-dominant model and 1.45 (95% CI: 1.21-1.87) by dominant model in the test set, respectively. Correspondingly, the ORs were 1.48 (95% CI: 1.19-1.82) and 1.41 (95% CI: 1.15-1.73) in the validation set, respectively. The crossover analysis showed that non-smokers with the variant genotypes in rs149941240 had a significantly increased risk of CRC than those with wild genotype by dominant model in the validation set (OR 1.42, 95% CI 1.04-1.96). However, no gene-environment multiplicative interactions of rs149941240 with tobacco smoking were found on risk of CRC.

CONCLUSIONS

Our findings suggest that rs149941240 polymorphism was associated with the risk of CRC, and might contribute to the susceptibility to CRC. The effects of this polymorphism should be validated in a larger sample and require further mechanistic investigations to determine the nature of its influence on CRC.