tagging polymorphisms and risk of colorectal cancer: a case-control study involving 2,306 subjects.

BACKGROUND

is a candidate gene which has been implicated in the development of colorectal cancer (CRC).

PATIENTS AND METHODS

To determine the important role of polymorphisms on risk of CRC, we genotyped four tagging polymorphisms and calculated crude/adjusted ORs with their 95% CIs. We recruited 1,003 sporadic CRC cases and 1,303 controls.

RESULTS

The findings suggested that CTLA-4 rs231775 G>A polymorphism increased the risk of CRC (homozygote model: adjusted OR=1.40, 95% CI=1.05-1.87, =0.022; dominant model: adjusted OR=1.19, 95% CI=1.00-1.41, =0.047; and recessive model: adjusted OR=1.38, 95% CI=1.05-1.82, =0.021). In a stratified analysis by site of tumor, this association was also found in colon cancer. We also found that rs231775 GA/AA genotypes might be associated with an increased risk of CRC in Zhenjiang cohort. In addition, we found the CTLA-4 rs16840252 C>T polymorphism was associated with the risk of colon cancer. Haplotype comparison analysis showed that - GCC A, GCTA, and other haplotypes increased the risk of CRC (<0.001, <0.001, and 0.002, respectively).

CONCLUSION

This study evidences an association of tagging polymorphisms and haplotypes with CRC risk. Additional well-designed studies with large sample sizes are required to confirm our findings.