摘要： 目的 通过生物信息学方法筛选骨肉瘤转移相关的关键基因，并探讨其对骨肉瘤患者预后的影响。方法 检索基因表达综合数据库（GEO）并获取GSE21257芯片数据集，通过GEO2R分析筛选差异表达基因（DEGs），并对DEGs进行基因本体（GO）功能注释和京都基因与基因组数据库（KEGG）富集分析，使用STRING数据库、Cytoscape软件绘制DEGs蛋白质-蛋白质相互作用网络，通过cytoHubba插件筛选出排名前5的关键基因。利用TARGET数据库探索关键基因在骨肉瘤样本的相关性并进行预后分析。结果 共筛选出55个DEGs，其中22个基因显著下调，33个基因显著上调。GO分析结果显示，DEGs主要参与抗原加工和外源肽抗原的呈递。KEGG结果表明DEGs主要参与金葡菌感染等信号通路。Cytohubba筛选的Top5基因分别为TYROBP、ITGB2、C1QB、C1QC、CD74。通过对TARGET数据库中骨肉瘤样本的生存分析发现TYROBP、C1QB、CD74高表达与骨肉瘤患者较高的总生存期有关（P < 0.05），而且CD74高表达提示骨肉瘤患者无病生存期较高（P < 0.05）。结论 TYROBP、C1QB、CD74在骨肉瘤转移性样本中均下调且与患者预后相关，可能是骨肉瘤转移的潜在生物标志物。本研究为骨肉瘤患者的预后提供了新的治疗靶点。

基于GEO和TARGET数据库分析骨肉瘤转移和预后的关键基因

裴忠霞, 孙晶

中国医科大学附属第一医院骨科, 沈阳 110001

收稿日期:2022-12-13出版日期:2023-11-30发布日期:2023-11-07
通讯作者:孙晶E-mail:sunjing_cmu@163.com
作者简介:裴忠霞(1988-),女,护师,本科.



关键词: 骨肉瘤, 转移, 生物信息学分析, 预后
Abstract: Objective To identify key genes involved in the metastasis of osteosarcoma using the bioinformatics method and explore their effects on the prognosis of patients with osteosarcoma. Methods The GSE21257 dataset was searched for the Gene Expression Omnibus (GEO) and screened for differentially expressed genes (DEGs) in GEO2R. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed on the DEGs. The DEG protein interaction network was mapped using the STRING database and Cytoscape software. The top five key genes were selected by the cytoHubba plugin. The TARGET database was used to explore the correlation of key genes in osteosarcoma samples and perform the prognostic analysis. Results A total of 55 DEGs were screened in this study, of which 22 were significantly down regulated and 33 were significantly up regulated. The GO analysis showed that DEGs were mainly involved in the processing and presentation of exogenous peptide antigens. The KEGG results demonstrated that the DEGs were mainly involved in Staphylococcus aureus infection signaling pathways. The top five genes were TYROBP, ITGB2, C1QB, C1QC, and CD74. According to the survival analysis of osteosarcoma samples in the TARGET database, high expressions of TYROBP, C1QB, and CD74 were associated with higher overall survival in patients with osteosarcoma (P < 0.05), while the high expression of CD74 suggested higher disease-free survival (P < 0.05). Conclusion The down-regulation of TYROBP, C1QB, and CD74 in osteosarcoma metastatic samples and their correlation with patient prognosis make them prospective biomarkers of osteosarcoma metastasis and possible novel therapeutic targets for patients with osteosarcoma.
Key words: osteosarcoma, metastasis, bioinformatics analysis, prognosis
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