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背景与目的:胃癌是青海省最常见的恶性肿瘤和致死病因之一,生活环境中的前致癌物质需要经过体内代谢酶代谢并转化为致癌物质,CYP2E1是人体内重要的Ⅰ相代谢酶,已知CYP2E1在不同人种、不同地区存在基因多态性,本研究旨在探讨CYP2E1 DraⅠ基因遗传多态性与青海地区人群胃癌易感性的相关性。方法:采用病例对照分子流行病的研究方法,并用数字表法随机选取世居青海的胃癌患者120例(胃癌组)和与之匹配的同期世居青海的健康体检者120例(对照组),应用PCR-RFLP技术对两组人群CYP2E1 DraⅠ位点的不同基因型及等位基因进行检测,分析其在两组间的分布特征。结果:CYP2E1基因DraⅠ位点各不同基因型(包括C/C、C/D、D/D)在胃癌组和对照组中的分布频率分别为58.33%、35.00%、6.67%和58.33%、38.34%、3.33%,两组差异无统计学意义(P分别=1.00、0.59、0.24);CYP2E1基因DraⅠ位点的等位基因(C和D)在胃癌组和对照组中的分布频率为75.83%、24.17%和77.50%、22.50%,两组差异无统计学意义(χ2=0.19,P=0.67);CYP2E1基因DraⅠ多态性位点突变基因型(C/D、D/D)与高/高中分化胃腺癌的发生相关(χ2=4.49,P=0.03,OR=3.5,95%CI:1.04~11.80),是青海地区发生高/高中分化胃腺癌的危险因素;CYP2E1 DraⅠ野生纯合子(C/C)与低分化胃腺癌的发生相关(χ2=3.97,P=0.049,OR=0.54,95%CI:0.29~1.00),是发生低分化胃腺癌的危险因素。结论:CYP2E1 DraⅠ基因遗传多态性与青海地区人群不同分化程度胃腺癌易感性存在一定相关性,携带CYP2E1DraⅠ野生型纯合子(C/C)者易发生低分化胃腺癌,携带突变纯合子(D/D)和突变杂合子(C/D)者易发生高分化及高中分化胃腺癌。
BACKGROUND & OBJECTIVE: Gastric cancer is one of the most common causes of malignant tumor and lethal cause in Qinghai Province. The pre-carcinogenic substances in living environment need to be metabolized by the metabolic enzymes of the body and transformed into carcinogens. CYP2E1 is an important Phase I metabolizing enzyme in the human body. To know CYP2E1 polymorphisms in different ethnic groups, different regions, the purpose of this study is to investigate CYP2E1 DraⅠ genetic polymorphism and gastric cancer in Qinghai population correlation. Methods: A case-control study of molecular epidemiology was conducted. 120 gastric cancer patients (gastric cancer group) and 120 matched healthy subjects (control group) The genotypes and alleles of CYP2E1 DraⅠ locus in both groups were detected by PCR-RFLP and their distribution characteristics were analyzed between the two groups. Results: The distribution frequencies of different genotypes (including C / C, C / D and D / D) of DraⅠ locus in CYP2E1 gene were 58.33%, 35.00%, 6.67% and 58.33% in gastric cancer group and 38.34% in control group % And 3.33%, respectively. There was no significant difference between the two groups (P = 1.00, 0.59 and 0.24, respectively). The frequencies of DraⅠ locus alleles (C and D) of CYP2E1 gene in gastric cancer group and control group were 75.83% , 24.17%, 77.50% and 22.50%, respectively. There was no significant difference between the two groups (χ2 = 0.19, P = 0.67) .The genotypes of C / D and D / (Χ2 = 4.49, P = 0.03, OR = 3.5, 95% CI: 1.04-11.80) in high school and high school were the risk factors of high / high differentiation gastric adenocarcinoma in Qinghai. The positive rate of CYP2E1 DraⅠ wild homozygote / C) was associated with the occurrence of poorly differentiated gastric adenocarcinoma (χ2 = 3.97, P = 0.049, OR = 0.54, 95% CI: 0.29-1.00), which was a risk factor for poorly differentiated gastric adenocarcinoma. CONCLUSION: The genetic polymorphism of CYP2E1 DraⅠ gene is associated with susceptibility to gastric cancer with different degrees of differentiation in the population of Qinghai. Patients with CYP2E1DraⅠ wild-type homozygote (C / C) are susceptible to poorly differentiated gastric adenocarcinoma and carry mutant homozygotes (D / D) and mutant heterozygotes (C / D) are prone to well differentiated and high differentiated gastric adenocarcinoma.