头颈部鳞状细胞癌miR-423基因拷贝数变异和多态性分析  

Copy number variation and polymorphism of miR-423 in head and neck squamous cell carcinoma

作　　者：郑银海 喻莹 黎桂珍 吴隆吉 刘玉婷 蒲兴祥[3] 李彬彬 ZHENG Yin-hai;YU Ying;LI Gui-zhen;WU Long-ji;LIU Yu-ting;PU Xing-xiang;LI Bin-bin(Second Clinical College,Guangdong Medical University,Dongguan 523808,China;Basic Medical College,Guangdong Medical University,Dongguan 523808,China;Department II of Thoracic Medicine,Hunan Cancer Hospital,Changsha 410031,China)

机构地区：[1]广东医科大学第二临床医学院,广东东莞523808 [2]广东医科大学基础医学院,广东东莞523808 [3]湖南省肿瘤医院胸部内二科,湖南长沙410031

出　　处：《广东医科大学学报》2022年第5期503-507,共5页Journal of Guangdong Medical University

基　　金：广东省科技计划项目(2014A020212560);国家级大学生创新创业训练计划项目(202010571013);广东省大学生创新创业训练计划项目(S202110571091);广东省科技创新战略专项资金项目(pdjh2021b0220);广东医科大学大学生创新实验项目(ZZDS002)。

摘　　要：目的探讨头颈部鳞状细胞癌(HNSCC)中miR-423表达、拷贝数变异(CNV)及rs6505162位点单核苷酸多态性(SNP)。方法基于TCGA数据库,分析HNSCC中miR-423表达、CNV分布及其与临床病理特征的关系;采用PCR-限制性片段长度多态性分析(PCR-RFLP)检测156例鼻咽癌(NPC)患者和195例对照者miR-423 rs6505162位点基因型,logistic回归模型分析基因型、等位基因与NPC易感性的关系。结果miR-423在482例HNSCC中表达明显增高(P<0.01),但与肿瘤分级、TNM分期和淋巴结转移均无相关性。496例HNSCC样本中,miR-423基因CNV达25.20%,并与年龄和HPV感染有关(P<0.05)。rs6505162基因型与NPC易感性无显著相关性(P>0.05),但携带A等位基因者NPC易感性明显高于C等位基因(OR=1.419,95%CI 1.009~1.997,P=0.044)。结论miR-423表达增加及CNV可能参与HNSCC发生,rs6505162 A等位基因可增加NPC发病风险。Objective To investigate the expression,copy number variation(CNV)and rs6505162 polymorphism of miR-423 in head and neck squamous cell carcinoma(HNSCC).Methods Based on TCGA database,expression and CNV of miR-423 and their relationship with clinicopathological features in HNSCC were analyzed.The genotypes of miR-423 rs6505162 in 156 nasopharyngeal carcinoma(NPC)patients and 195 healthy controls were detected by PCR-restriction fragment length polymorphism(PCR-RFLP),and relationship between the genotype or allele frequency and NPC susceptibility was analyzed using logistic regression model.Results miR-423 expression was increased in 482 HNSCC cases(P<0.01),but not related to tumor grade,TNM stage and lymph node metastasis.CNV of miR-423 accounted for 25.20%of 496 HNSCC cases,and were associated with age and HPV infection(P<0.05).The genotypes of rs6505162 were not correlated with NPC susceptibility(P>0.05),while allele A was more susceptible to NPC than C(OR=1.419,95%CI 1.009-1.997,P=0.044).Conclusion The overexpression and CNV of miR-423 may be involved in HNSCC development.The allele A of rs6505162 might contribute to NPC susceptibility.

关 键 词：头颈部鳞状细胞癌 鼻咽癌 miR-423 拷贝数变异 多态性 

分 类 号：R739.6[医药卫生—肿瘤]