An updated meta-analysis on the association of TGF-β1 gene promoter -509C/T polymorphism with colorectal cancer risk

Aim: Published data on the association between transforming growth factor-β1 (TGF-β1) gene promoter-509C/T polymorphism and colorectal cancer (CRC) risk are inconsistent and inconclusive. To derive a more precise estimation of this association, a meta-analysis was carried out.

Methods: Meta-analysis was performed to evaluate reported studies of the relationship between TGF-β1 gene promoter-509C/T polymorphism and colorectal cancer risk using fixed-effects model and random-effects model.

Results: We observed an increased colorectal cancer risk among subjects carrying TGF-β1 gene promoter-509CC+CT genotype (odds ratio (OR)=1.18%, 95% confidence interval (95% CI): 1.06-1.32) using 4440/6785 cases/controls in total population. We observed an increased risk of the TGF-β1 gene promoter -509CC, CT and CC+CT polymorphisms for colorectal cancer in population-based study (OR=1.36, 95% CI: 1.19-1.56, OR=1.18, 95% CI: 1.03-1.34 and OR=1.26, 95% CI: 1.12-1.43, respectively) in stratified analysis. We observed an increased colorectal risk among CC and CC+CT carriers in European and American population (OR=1.22, 95% CI: 1.04-1.43 and OR=1.18, 95% CI: 1.02-1.38, respectively). We also observed an increased risk of colon cancer among subjects carrying CC+CT genotype (OR=1.31, 95% CI: 1.05-1.63).

Conclusions: The present meta-analysis results suggest that TGF-β1 gene promoter -509C allele variant is a possible risk factor for developing colorectal cancer. Recommendations for further studies include pooling of individual data to verify results from the study and to facilitate evaluation of multigenic effects and detailed analysis of effect modification by environmental and lifestyle factors.