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目的筛选江苏省南京市汉族人群胃癌遗传易感因素(基因多态性),进行多基因危险度分析。方法采用1:1配对病例对照研究方法 ,以374例南京市汉族人群原发性胃癌病例及对照为研究对象,检测CYP2E1、GSTM1、GSTT1、NAT2、ALDH2、MTHFR、XRCC1、IL-1B、VDR、TNF等基因型别;以条件Logistic回归模型进行胃癌遗传危险因素的筛选,并对选取出的危险因素进行多基因危险度分析。结果原发性胃癌遗传易感因素有6项,分别为CYP2E1野生型(OR=1.348,95%CI=1.075～1.690)、NAT2M1突变型(OR=2.310,95%CI=1.613～3.309)、NAT2慢乙酰化型(OR=1.768,95%CI=1.018～3.072)、XRCC1194突变型(OR=1.449,95%CI=1.140～1.842),MTHFRA1298C突变型(OR=1.521,95%CI=1.111～2.083),IL-1β突变型(OR=1.271,95%CI=1.031～1.568)。结论多基因组合作用OR值与其基因频率存在高度相关性,随着易感基因的增加,危险性升高。
Objective To screen genetic predisposition (genetic polymorphism) of gastric cancer in Han nationality in Nanjing, Jiangsu Province, and analyze the risk of multiple genes. Methods A case-control study was conducted in 374 cases of primary gastric cancer in Han nationality of Nanjing and the control subjects were used to detect CYP2E1, GSTT1, NAT2, ALDH2, MTHFR, XRCC1, IL-1B, VDR, TNF and other genotypes; conditional Logistic regression model of genetic risk factors for screening of gastric cancer, and selected risk factors for multi-gene risk analysis. Results Six genetic predisposes to primary gastric cancer were CYP2E1 wild type (OR = 1.348, 95% CI = 1.075-1.690), NAT2M1 mutation (OR = 2.310, 95% CI = 1.613-3.309) (OR = 1.768, 95% CI = 1.018-3.072), XRCC1194 mutation (OR = 1.449, 95% CI = 1.140-1.842), MTHFRA1298C mutation (OR = 1.521, 95% CI = 1.111-2.08 ), IL-1β mutant (OR = 1.271, 95% CI = 1.031 ~ 1.568). Conclusion The OR value of multi-gene combination has a high correlation with the gene frequency, and the risk increases with the increase of susceptibility genes.