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目的:探讨肿瘤坏死因子-α(tumor necrosis factor alpha,TNF-α)的基因多态性及环境因素在新疆哈萨克族食管癌家族聚集中的交互作用。方法:在新疆北部食管癌高发区选取43例新疆哈萨克族食管癌家族成员及40例对照家族成员为研究对象,采用PCR-RFLP方法检测两组研究对象的外周血TNF-α308位点的基因型,对研究对象进行环境因素调查。结果:在新疆哈萨克族食管癌家族和非食管癌家族成员中TNF-α308位点的不同基因型分布差异有统计学意义(P=0.004,OR=8.786,95%CI:1.824~12.748),在食管癌家族成员中TNF-α308位点基因携带突变基因AA型和GA型频率明显增高,是非食管癌家族成员的8.786倍;在食管癌患者与非患者之间TNF-α308位点的GG、GA、AA基因型分布差异有统计学意义(P=0.031,OR=2.821,95%CI为1.722~11.016),与GG型相比,突变型基因可显著增加新疆哈萨克族食管癌的发病风险。分析TNF-α308位点的不同基因型与环境因素的交互作用,提示TNF-α308位点的基因多态性与饮酒(P=0.016,OR=1.531,95%CI:0.143~1.897)、暴饮暴食(P=0.021,OR=1.340,95%CI:0.266~3.789)在新疆哈萨克族食管癌家族发病可能起到交互作用。结论:TNF-α308位点基因多态性在新疆哈萨克族食管癌家族聚集中起一定作用。TNF-α308位点的基因多态性与饮酒、暴饮暴食在新疆哈萨克族食管癌家族发病中起到共同作用,可能与新疆哈萨克族食管癌高发有关。
Objective: To investigate the gene polymorphism of tumor necrosis factor alpha (TNF-α) and the interaction of environmental factors in the familial aggregation of Kazakh esophageal cancer in Xinjiang. Methods: Forty-three Xinjiang Kazak esophageal cancer family members and 40 control family members were selected as the study subjects in the high risk area of esophageal cancer in northern Xinjiang. The genotypes of TNF-α308 in peripheral blood of the two groups were detected by PCR-RFLP , The research object environmental factors survey. Results: There were significant differences in the distribution of different genotypes of TNF-α308 in Kazakh family members with esophageal cancer and non-esophageal cancer (P = 0.004, OR = 8.786, 95% CI: 1.824-12.748) The frequencies of AA genotypes and GA genotypes in TNF-α308 locus of esophageal cancer family members were significantly higher than that of non-esophageal cancer family members, which was 8.786 times that of non-esophageal cancer family members. (P = 0.031, OR = 2.821, 95% CI: 1.722-11.016). Compared with GG type, the mutant type gene could significantly increase the risk of esophageal cancer in Kazak of Xinjiang. Analysis of the interaction between different genotypes of TNF-α308 locus and environmental factors suggested that TNF-α308 gene polymorphism was associated with alcohol consumption (P = 0.016, OR = 1.531, 95% CI: 0.143 ~ 1.897) Overeating (P = 0.021, OR = 1.340, 95% CI: 0.266 ~ 3.789) may play an interactive role in the Kazak esophageal cancer family in Xinjiang. Conclusion: Gene polymorphism of TNF-α308 may play a role in familial aggregation of esophageal cancer in Kazak of Xinjiang. TNF-α308 locus polymorphism and drinking, binge eating in Xinjiang Kazak esophageal cancer family members play a common role, may be associated with high incidence of esophageal cancer in Kazak in Xinjiang.