【摘要】 目的 探讨并鉴定子宫内膜癌中5-甲基胞嘧啶（m~5C）调节因子的相关基因。方法 从TCGA数据库中下载子宫内膜癌的表达谱数据及临床随访信息数据，采用R 3.6.3软件对数据集进行分析。分析RNA m~5C相关调控基因在基因组、转录组及调控网络的特征。结果 从TCGA数据库中筛选出542个子宫内膜癌组织样本和35个正常组织样本。与子宫内膜癌相关的m~5C调控基因共有17个，包括NOP2、NSUN2、NSUN3、NSUN4、NSUN5、NSUN6、NSUN7、DNMT1、DNMT3A、DNMT3B、TRDMT1、TET1、TET2、TET3、ALKBH1、ALYREF、YBX1。17个RNA m~5C相关调控基因均有不同程度的突变情况，其中突变较高的有TET1(33%),TET3(27%),TET2(26%),DNMT1(23%)和DNMT3B(23%)。17个RNA m~5C相关调控基因均存在一定频率的拷贝数变异，其中TET1基因的拷贝数变异情况较为突出。与正常组织比较，NOP2、DNMT1、DNMT3A、DNMT3B、TET3、ALYREF在子宫内膜癌组织中高表达（P<0.05）,NSUN3、NSUN6、TRDMT1、TET2、ALKBH1在子宫内膜癌组织中低表达（P<0.05）。各基因之间均存在一定的相互作用。TET2和TRDMT1高表达组及低表达组生存率比较，差异无统计学意义（P>0.05）;NOP2、NSUN2、NSUN3、NSUN4、NSUN5、NSUN6、NSUN7、DNMT1、DNMT3A、DNMT3B、TET1、TET3、ALKBH1、ALYREF和YBX1高表达组生存率低于低表达组（P<0.05）。结论 m~5C的相关调控基因的异常促进子宫内膜癌的进展，并且与子宫内膜癌的预后相关。这些基因可以作为子宫内膜癌潜在的生物标志物，为子宫内膜癌的发生、发展和预后预测提供数据支持。更多还原

【Abstract】 Objective To explore and identify the genes related to 5-methylcytosine(m~5C) regulator in endometrial carcinoma. Methods The expression profile data and clinical follow-up data of endometrial carcinoma were downloaded from TCGA database, and the data set was analyzed by R 3.6.3 software. The characteristics of RNA m~5C related regulatory genes in the genome, transcriptome, and regulatory network were analyzed. Results A total of 542 endometrial carcinoma tissue samples and 35 normal tissue samples were screened from TCGA database. There were 17 m~5C regulatory genes associated with endometrial carcinoma, including NOP2, NSUN2, NSUN3, NSUN4, NSUN5, NSUN6, NSUN7, DNMT1,DNMT3A, DNMT3B, TRDMT1, TET1, TET2, TET3, ALKBH1, ALYREF, and YBX1. A total of 17 RNA m~5C related regulatory genes had different degrees of mutation, among which TET1(33%), TET3(27%), TET2(26%), DNMT1(23%), and DNMT3B(23%) had higher mutations. Copy number variation was found in 17 RNA m~5C related regulatory genes, and the copy number variation was more prominent in TET1 gene. Compared with normal tissues, NOP2, DNMT1, DNMT3A,DNMT3B, TET3, and ALYREF were highly expressed in endometrial carcinoma tissues(P<0.05), while NSUN3, NSUN6, TRDMT1, TET2, and ALKBH1 were low expressed in endometrial carcinoma tissues(P <0.05). There was some interaction between all the genes. There was no significant difference in survival rate between high and low expression groups of TET2 and TRDMT1(P>0.05); the survival rate of high expression group with NOP2, NSUN2, NSUN3, NSUN4, NSUN5, NSUN6, NSUN7, DNMT1, DNMT3A, DNMT3B, TET1,TET3, ALKBH1, ALYREF, and YBX1 groups were lower than those of low expression group(P <0.05). Conclusion Abnormalities in the relevant regulatory genes of m~5C promote the progression of endometrial carcinoma and are associated with the prognosis of endometrial carcinoma. These genes can be used as potential biomarkers of endometrial carcinoma and provide data support for the occurrence, development and prognosis prediction of endometrial carcinoma.更多还原