The -938A/A genotype of BCL2 gene is associated with esophageal cancer.

Perturbations in the apoptotic genes have been implicated in human malignancies. The purpose of the present study was to investigate the polymorphisms of -938C/A, Thr43Ala in anti-apoptotic B-cell lymphoma 2 gene (BCL2) and -248G/A in pro-apoptotic B-cell lymphoma 2-associated X protein gene (BAX) and to explore their role in influencing the susceptibility for development of esophageal cancer. A total of 205 esophageal cancer patients and 224 controls were enrolled in the present study. The genotype and allele distributions of -938C/A, ala43thr in BCL2 and -248G/A in BAX were analyzed in patients and controls, as well as the association of -938C/A genotype with clinical characteristics in patients. We found that homozygous -938A/A genotype of BCL2 gene was significantly associated with risk of developing esophageal cancer (χ2=9.269, P=0.002, OR=2.585, 95%CI = 1.380-4.842). Association with clinical characteristics showed that the patients with BCL2 -938A/A genotype were more likely to develop into poor differentiation compared with the AC and CC carriers (χ2=5.796, P=0.016, OR=4.039, 95%CI=1.200-13.596), and we found smokers were more present in the -938A/A genotype subgroup (χ2=5.095, P=0.024, OR=2.679, 95%CI=0.893-8.025). The present study revealed that the -938A/A genotype of BCL2 gene is associated with susceptibility of esophageal cancer. There appeared to be an impact of BCL2 -938A/A genotype on tumor differentiation and smoking. Further studies are needed in a larger population.