Objective: To investigate the association between the promoter region-938 polymorphism of B-cell lymphoma/leukemia-2 (Bcl-2) gene and the esophageal cancer (EC) and gastric cardia adenocarcinoma (GCA) in Hebei Province. Methods: From 2007 to 2010, 145 esophageal cancer patients and 169 cardiaccancer patientsfrom the outpatient department of the Fourth Hospital of Hebei Medical Universitywereselected in a case group, and 195 non-tumor patients were selected in a control group during the same period. A questionnaire survey was used to collect information of research subjects. Pathological tissues were collected to extract genomic DNA and detect the genotype of bcl-2 gene -938. A multivariate logistic regression model was used to analyze the association between the bcl-2 gene locus 938 CC genotype and the EC and GCA. The interaction between age, gender, smoking, drinking, upper gastrointestinal family history and the bcl-2 gene locus 938 CC genotype was analyzed by likelihood ratio test. Results: The age of the esophageal and cardiac cancer groups was (56.3±8.3) and (57.1±8.4) years old, and that of the control group was (54.7±7.1) years old. The proportion of the bcl-2 gene locus 938 CC genotype in the esophageal group [48.3% (70/145)] and the cardiac cancer group [48.5% (82/169)] was higher than that in the control group [33.8% (66/195)] (both P values<0.05).Compared with the AA genotype, the risk of esophageal cancer and cardiac cancerin people with the CC genotype was 2.386 (1.20-4.76) and 2.564 (1.27-5.18) respectively. In the population with CC genotype, compared with the positive family history, drinking, and male, the negative family history, non-drinking, and female had a higher risk of esophageal cancer; compared with the non-smoking, negative family history, non-drinking and male, the smoking, positive family history, drinking, and female had a higher risk of cardiac cancer (all the P interaction values were <0.05). Conclusion: People with bcl-2 gene locus 938 CC genotype in Hebei Provincewere more likely to suffer from the esophageal and gastric cardia adenocarcinoma.
目的： 探讨Bcl-2基因-938位点单核苷酸多态性与食管癌、贲门癌的关联。 方法： 采用病例对照的研究方法，于2007—2010年在河北医科大学第四医院门诊收集食管癌、贲门癌患者各145、169例为病例组，同期选取195例来自该地就诊的非肿瘤患者为对照组。采用问卷调查收集研究对象信息，采集食管、贲门病变组织，提取基因组DNA，并检测Bcl-2基因-938位点基因型；采用多因素logistic回归模型，分析Bcl-2基因-938位点CC基因型与EC、GCA间的关联，并采用似然比检验分析年龄、性别、吸烟、饮酒、上消化道家族史与Bcl-2基因-938位点CC基因型的交互作用。 结果： 食管和贲门癌组年龄分别为（56.3±8.3）、（57.1±8.4）岁，对照组年龄为（54.7±7.1）岁，差异均无统计学意义（P值均>0.05）；食管组、贲门癌组Bcl-2基因-938位点CC基因型占比[48.3%（70/145）、48.5%（82/169）]均高于对照组[33.8%（66/195）]（P值均<0.05）。与携带AA基因型者相比，携带CC基因型者患食管癌、贲门癌的风险OR（95%CI）值分别2.386（1.195~4.764）和2.564（1.268~5.184）。在携带CC基因型人群中，与家族史阳性、饮酒、男性相比，家族史阴性、不饮酒、女性患食管癌的风险更高；与不吸烟、家族史阴性、不饮酒、男性相比，吸烟、家族史阳性、饮酒、女性患贲门癌的风险更高(P(交互)<0.05)。 结论： 携带Bcl-2基因-938位点CC基因型者较易罹患食管癌、贲门癌。.
Keywords: Carcinoma; Case-control studies; Genes, bcl-2; Polymorphism, single nucleotide.