【摘要】 目的:筛选子宫肉瘤(uterine carcinosarcoma, UCS)进展相关的核心差异基因(differentially expressed genes, DEGs),探讨其生物学作用并筛选预后相关生物标志物。方法:从美国国立生物数据中心下的GEO数据库获取包含子宫肉瘤和正常组织的表达数据集GSE64763,使用Limma包筛选差异基因。对筛选得到的差异基因运用ClusterProfiler包进行GO和KEGG分析，并通过蛋白互作网络(protein protein interaction network, PPI)在线平台String和Cytoscape(3.7.2)软件对DEGs分析，筛选核心基因。再基于GEPIA(gene expression profiling interactive analysis)数据库，验证核心基因的表达与预后关系。结果:共筛选出861个DEGs,其中上调DEGs 426个，下调DEGs 435个。富集GO主要生物活性信号15条，主要包括染色质结合、DNA转录活性激活、细胞外基质组成等生物过程。富集KEGG信号15条，主要包括细胞循环通路、DNA复制通路、p53信号通路。成功筛选出核心基因网络，包含DEGs 10个，均为上调基因。通过GEPIA数据库验证后得到与UCS预后相关的差异基因CENPA。结论:UCS差异表达基因主要集中在染色体结合活性、DNA复制活性、细胞循环通路与p53信号通路等。CENPA基因可能为UCS早期诊断的生物标志物和治疗的潜在靶点。更多还原

【Abstract】 Objective:To screen differentially expressed genes(DEGs) related to the progression of Uterine Carcinosarcoma(UCS),explore their biological functions and screen biomarkers related to prognosis.Methods:GSE64763,which contains uterine sarcoma and normal tissues, was obtained from GEO database under National Biological Data Center of the United States, and the differential genes were screened by Limma package.GO and KEGG analysis were carried out on the screened differential genes by using ClusterProfiler package, and DEGs analysis was carried out by using String and Cytoscape(3.7.2) software of protein protein interaction network(PPI) online platform to screen the core genes.Then, based on gene expression profiling interactive analysis(GEPIA) database, the relationship between the expression of core genes and prognosis was verified.Results:A total of 861 DEGs were screened out, of which 426 were up-regulated and 435 were down-regulated.15 main biological activity signals of GO were enriched, including chromatin binding, extracelluar matrix structural constituent, DNA-binding transcription acrivator activity and other biological processes.15 KEGG signals were enriched, including cell cycle pathway, DNA replication pathway and p53 signal pathway.The core gene network was successfully screened, including 10 DEGs, all of which were up-regulated genes.The differential gene CENPA related to the prognosis of UCS was obtained after verification by GEPIA database.Conclusion:UCS differentially expressed genes are mainly concentrated in chromosome binding activity, DNA replication activity, cell cycle pathway and p53 signal pathway.CENPA gene may be a biomarker for early diagnosis of UCS and a potential target for treatment.更多还原