CASP 3 genetic polymorphisms and risk of Hepatocellular carcinoma: a case-control study in a Chinese population

Caspase (CASP) 3 is an important caspase in the apoptosis pathway and plays an important role in the development and progression of cancer. We hypothesized that genetic variants in CASP 3 may modify individual susceptibility to hepatocellular carcinoma (HCC). Five hundred HCC cases in West China Hospital were selected, and 500 healthy cases with the same gender, age (+/- 5 years), and residence place were selected as control group, with proportion of 1:1. The matrix-assisted laser desorption ionization time-of-flight mass spectrometry method was performed to detect these polymorphisms. Among the 500 cases and 500 controls with DNA samples, the genotyping was successful for the CASP3 polymorphisms (rs6948, rs1049216, and rs12108497) in 486 HCC cases and 495 controls, which were included in the final analyses.The results showed that the genotype frequencies of the CASP3 did not differ significantly between the HCC patients and the control group (P > 0.05). However, when stratifying by age, sex, smoking, drinking, HBV carrier status, and family history of cancer, we found that the variant genotypes (CT + TT) of the CASP3 rs12108497 were associated with a significant increased risk of HCC among smoking individuals (adjusted OR = 2.31, 95 % CI = 1.11-4.79). No significant association was observed between the other two polymorphisms of the CASP3 gene and risk of HCC in any stratification analysis. These results suggest that the CASP3 rs12108497 polymorphism may play a role in the development of HCC among smoking individuals in the Chinese population.