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鉴别并对具有功能性的颅咽管瘤潜在诊断和治疗靶点进行富集分析。

Identification and Functional Enrichment Analysis of Potential Diagnostic and Therapeutic Targets in Adamantinomatous Craniopharyngioma.

机构信息

Department of Neurosurgery, Affiliated Navy Clinical College of Anhui Medical University, Beijing, P.R. China.

Department of Neurosurgery, Chinese PLA General Hospital-Sixth Medical Center, Beijing, P.R. China.

出版信息

J Comput Biol. 2020 Jan;27(1):55-68. doi: 10.1089/cmb.2019.0184. Epub 2019 Aug 19.

DOI:10.1089/cmb.2019.0184
PMID:31424286
Abstract

Adamantinomatous craniopharyngioma (ACP) is a congenital epithelial tumor in the sellar region with benign histological manifestation but invasive. Currently, surgery is the main treatment for it, but its recurrence rate is high. Therefore, it is of great importance to explore the mechanism of occurrence and development of ACP and to identify new molecules. One gene expression profile, GSE94349, was downloaded from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) were identified by the limma package. Gene set enrichment analysis was used to make enrichment analysis using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Then, we performed the construction and analysis of the protein-protein interaction (PPI) network and significant module. The analysis of the GSE94349 dataset identified 109 DEGs, consisting of 80 upregulated genes and 29 downregulated genes in ACP samples compared with normal brain tissues. Functional and pathway enrichment analysis of DEGs provided a comprehensive overview of some major pathophysiological mechanisms in ACP: RNA polymerase II promoter, glutamate receptor binding, and so on. A total of 10 hub genes of DEGs were obtained from the PPI network, which provided potential therapeutic targets for the ACP. In summary, there were DEGs between ACP tissues and normal brain tissues, which may be involved in the mechanisms of occurrence and development of ACP, especially via the regulation of RNA polymerase II promoter and glutamate receptor binding. Key genes in DEGs could serve as new research targets for the diagnosis and treatment of ACP.

摘要

颅咽管瘤(ACP)是一种发生于鞍区的先天性上皮性肿瘤,具有良性组织学表现,但具有侵袭性。目前,手术是其主要治疗方法,但复发率较高。因此,探讨 ACP 的发生发展机制,寻找新的分子标志物具有重要意义。本研究从基因表达数据库(GEO)中下载了一个基因表达谱数据集 GSE94349,利用 limma 包识别差异表达基因(DEGs),采用基因本体论(GO)和京都基因与基因组百科全书(KEGG)对 DEGs 进行基因集富集分析,构建并分析蛋白质-蛋白质相互作用(PPI)网络及显著模块。分析 GSE94349 数据集发现,与正常脑组织相比,ACP 样本中有 109 个 DEGs,包括 80 个上调基因和 29 个下调基因。对 DEGs 的功能和通路富集分析提供了 ACP 中一些主要病理生理机制的全面概述,如 RNA 聚合酶 II 启动子、谷氨酸受体结合等。从 PPI 网络中获得了 10 个 DEGs 的枢纽基因,为 ACP 的治疗提供了潜在的靶点。综上所述,ACP 组织与正常脑组织之间存在 DEGs,这些基因可能参与了 ACP 的发生发展机制,特别是通过 RNA 聚合酶 II 启动子和谷氨酸受体结合的调节。DEGs 中的关键基因可作为 ACP 诊断和治疗的新研究靶点。

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