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目的探讨、相代谢酶基因多态性与新疆哈萨克族人群食管癌发病风险的关系。方法收集经组织病理学确诊的哈萨克族食管鳞癌新发病例88例外周血液标本,提取DNA后用PCR-RFLP技术检测CYP2C19、GSTT1基因多态性。结果食管癌组和对照组中CYP2C19m1、CYP2C19m2基因各型之间差异无统计学意义(P>0.05),但食管癌组S-美芬妥英慢代谢者(PM)的患病率为26.1%,为正常对照组11.1%约2倍多,两者差异有统计学意义(χ2=5.72,P<0.05,相对危险度OR=2.831,95%可信度CI:1.180～6.793)。GSTT1基因缺失型(-)和正常型(+)频率在对照组中分别为45.4%和54.2%,在哈萨克族食管癌组中分别为64.8%和35.2%,两组间的频率分布差异有统计学意义(P<0.05,OR=2.173,95%CI:1.149～4.110)。结论相代谢酶基因CYP2C19在哈萨克族人群中具有遗传多态性,CYP2C19m1和CYP2C19m2是两个相互独立的突变型等位基因,CYP2C19慢代谢者参与了食管癌致癌物的灭活,其活性降低时可增加患食管癌的易感性。相代谢酶基因GSTT1基因缺失型(-)可能是哈萨克族人群患食管癌重要的生物标志。对哈萨克族人群进行、相代谢酶基因分型,有助于筛选食管癌发生的高危人群,可为食管癌的预防和早期诊断提供科学依据。
Objective To explore the relationship between the polymorphism of phase metabolizing enzymes and the risk of esophageal cancer in Xinjiang Kazak population. Methods 88 cases of newly diagnosed cases of esophageal squamous cell carcinoma of the Kazakh who had been diagnosed by histopathology were collected for the detection of CYP2C19 and GSTT1 gene polymorphism by PCR-RFLP. Results There were no significant differences in the CYP2C19m1 and CYP2C19m2 genotypes between esophageal cancer group and control group (P> 0.05), but the prevalence of S-mephenytoin slow esophageal cancer (PM) in esophageal cancer group was 26.1% (Χ2 = 5.72, P <0.05, relative risk OR = 2.831, 95% confidence CI: 1.180 ~ 6.793), which was 11.1% of the normal control group about 2 times more. GSTT1 gene deletion (-) and normal (+) frequency in the control group were 45.4% and 54.2%, respectively, in the Kazakh esophageal cancer group were 64.8% and 35.2%, the frequency distribution of the two groups were statistically different Significance (P <0.05, OR = 2.173, 95% CI: 1.149 ~ 4.110). Conclusion CYP2C19 is a genetic polymorphism in the Kazakh population. CYP2C19m1 and CYP2C19m2 are two independent alleles. CYP2C19 is involved in the carcinogenesis of esophageal cancer, and its activity is decreased Can increase the susceptibility to esophageal cancer. The deletion of GSTT1 gene (-), a phase metabolic enzyme gene, may be an important biomarker of esophageal cancer in Kazak population. It is helpful to screen the high-risk population of esophageal cancer for the Kazakh population and genotyping metabolic enzymes to provide a scientific basis for the prevention and early diagnosis of esophageal cancer.