Peyronie's病差异表达基因的筛选及生物信息学分析  

Screening of differentially expressed genes and bioinformatics analysis upon Peyronie's disease genome microarray based on GEO database

作　　者：叶妙勇 张存明 吴忠标 马利民[2] 赵凡 Ye Miaoyong;Zhang Cunming;Wu Zhongbiao;Ma Limin;Zhao Fan(Department of Urology,The Affiliated Wenling Hospital of Wenzhou Medical University,Wenling 317500,China;Department of Urology,Affiliated Hospital of Nantong University,Nantong 226001,China)

机构地区：[1]温州医科大学附属温岭医院泌尿外科,浙江温岭317500 [2]南通大学附属医院泌尿外科,江苏南通226001

出　　处：《中国男科学杂志》2023年第2期46-55,共10页Chinese Journal of Andrology

基　　金：国家自然科学基金项目(81771571);温岭市科技计划项目(2018C310012,2021S00219);南通大学附属医院博士科研启动基金立项课题(Tdb2006)。

摘　　要：目的运用生物信息学方法探讨Peyronie’s病(PD)的差异表达基因(DEGs)及相关信号通路和生物学过程。方法通过基因表达数据库(GEO)检索获得PD患者成纤维细胞的基因芯片数据集GSE146500,利用R语言工具(版本号:4.1.0)筛选出DEGs,予可视化处理,并对DEGs进行基因功能注释(GO)、京都基因与基因组百科全书(KEGG)通路富集分析、基因集富集分析(GSEA);STRING数据库与Cytoscape软件构建蛋白质-蛋白质互作(PPI)网络,并根据作用程度筛选枢纽基因。结果共获得1326个差异基因,其中PD组的上调基因513个,下调基因813个。GO富集分析表明DEGs主要参与了细胞外基质组成组织、胶原含量、细胞外基质成分等;KEGG信号通路富集分析结果主要包括细胞外基质受体交互、细胞黏附分子、焦点粘连、TGF-β信号通路、PI3K/AKT信号通路、MAPK信号通路、细胞因子间受体交互等;GSEA分析结果显示主要包括TGF-β、上皮间质转化、NF-κB调控的TNF-α等信号通路。PPI分析筛选获得10个枢纽基因,分别为ASPM、CDK1、BUB1、BUB1B、KIF11、CCNB2、CDC20、TOP2A、DLGAP5、CCNB1。结论基于生物信息学分析手段筛选获得与PD发病密切相关的DEGs、信号通路及枢纽基因等,为进一步研究奠定理论基础。Objective Explore differentially expressed genes of Peyronie's disease(PD)and their related signal pathways and biological processes through bioinformatics analysis.Methods Based on the GEO(Gene Expression Omnibus),the microarray dataset CSE146500 was downloaded for screening DEGs.DEGs were visualized by R language tool(version 4.1.0).The clusterProfiler package was used to perform gene function annotation(GO),Kyoto Encyclopedia of Genes and Genomes(KECG)pathway enrichment analysis,gene set enrichment analysis(GSEA).STRING database and Cytoscape software were applied to construct protein-protein interaction(PPI)Network and obtain hub genes.Results A total of 1326 differential genes were identified,of which there were 513 up-regulated genes and 813 down-regulated genes in the PD group.G0 enrichment analysis showed that DEGs mainly participated in the process of extracellular matrix organization,extracellular structure organization,and collagen content.The enrichment analysis of KEGG signaling pathway mainly included extracellular matrix receptor interaction,cell adhesion molecules,focal adhesion,TGF-βsignaling pathway,PI3K/AKT signaling pathway,MAPK signaling pathway,receptor interaction between cytokines,etc.GSEA analysis revealed that the biological pathways mainly included TGF-βsignaling,epithelial mesenchymal transition,TNF-αsignaling via NF-kB,etc.PPI analysis and screening obtained 10 hub genes,including ASPM,CDK1,BUB1,BUBIB,KIF11,CCNB2,CDC20,TOP2A,DLGAP5,CCNB1.Conclusion DEGs,signaling pathways,and hub genes were identified to be associated with the pathogenesis of PD via bioinformatics analysis,which laid a theoretical foundation for further studies.

关 键 词：Peyronie’s病 勃起功能障碍 生物信息学 基因 

分 类 号：R697.17[医药卫生—泌尿科学]