黎秀月 苏珍 何艳 邹国荣 曹小龙

[摘要]目的探討肿瘤坏死因子α诱导蛋白3（TNFAIP3）基因多态性在食管癌癌组织与癌旁组织的分布差异及与临床病理参数的相关性。方法利用聚合酶链式反应（PCR）和一代测序技术，对2016年1月至2019年7月在广州市番禺区中心医院住院的30例食管癌手术患者癌组织与对应癌旁组织中 TNFAIP3基因7个多态性位点（rs2230926、rs5029928、rs5029939、rs610604、rs7753873、rs9494885、rs583522）进行检测。结果分析 TNFAIP3基因的7个多态性位点的不同基因型频率在食管癌患者癌与癌旁组织中的分布，差异无统计学意义（ P >0.05）;各多态性位点不同基因型与患者年龄、性别、肿瘤部位、组织分化、浸润深度、淋巴结转移、临床分期均无相关性。结论 TNFAIP3基因7个多态性位点（rs2230926、rs5029928、rs5029939、 rs610604、rs7753873、rs9494885、rs583522）的基因型频率在食管癌患者癌与癌旁组织分布无差异，不同基因型与食管癌患者临床参数也无相关性。

[关键词]肿瘤坏死因子α诱导蛋白3基因;基因多态性;食管癌;一代测序

[中图分类号] R735.1  [文献标识码] A   [文章编号]2095-0616（2021）24-0192-05

Correlation between tumor necrosis factor-alpha-induced protein3 gene polymorphism and clinical features of esophageal cancer LI  Xiuyue    SU  Zhen    HE  Yan    ZOU  Guorong    CAO  Xiaolong

Department of Oncology， Guangzhou Panyu Central Hospital， Guangdong， Guangzhou 511400， China

[Abstract] Objective To investigate the distribution difference of tumor necrosis factor-alpha-induced protein 3（TNFAIP3） gene polymorphism between esophageal cancer （EC） tissues and adjacent tissues and its correlation with clinicopathological parameters. Methods Polymerase chain reaction （PCR） and first-generation sequencing technology were used to detect seven polymorphic sites （rs2230926， rs5029928， rs5029939， rs610604， rs7753873， rs9494885 and rs583522） of TNFAIP3 gene in cancer tissues and corresponding adjacent tissues of 30 patients with EC who were hospitalized in Guangzhou Panyu Central Hospital from January 2016 to July 2019. Results The distribution of different genotype frequencies of 7 polymorphic sites of TNFAIP3 gene in cancer and adjacent tissues of EC patients was analyzed， and there was no significant difference （P >0.05）. Different genotypes of each polymorphic site were not correlated with age， gender， tumor location， tissue differentiation， invasion depth， lymph node metastasis and clinical stage. Conclusion There is no difference in the genotype frequency of seven polymorphic loci （rs2230926， rs5029928， rs5029939， rs610604， rs7753873， rs9494885 and rs583522） in the distribution of cancer and adjacent tissues of EC patients， and there is no correlation between different genotypes and clinical parameters of EC patients.[Key words] Tumor necrosis factor-alpha-induced protein 3 gene; Gene polymorphism; Esophageal cancer; First generation sequencing

肿瘤坏死因子α诱导蛋白3（tumor necrosis factor alpha-induced protein 3，TNFAIP3）是 NF-κB 誘导表达的泛素编辑酶，位于人类染色体6q23，具有去泛素化酶和泛素连接酶的双重生物学功能，通过修饰 NF-κB 信号通路中的一些重要信号蛋白的泛素化状态而发挥调控 NF-κB 表达状态的功能[1-2]。 TNFAIP3基因在人群中呈现不同的多态性位点，已有研究表明 TNFAIP3基因多态性与包括类风湿关节炎、系统性红斑狼疮、原发性干燥综合征在内的自身免疫性疾病的疾病易感性和临床病理参数有一定的相关性[3-5]。此外，该基因的多态性位点 rs610604可以作为食管癌预后的独立预测因子[6]。但针……