基于转录组学探讨骨肉瘤关键基因与相关通路  

Identification of key genes and related pathways in osteosarcoma based on transcriptomics

作　　者：赵乐 徐磊磊 王守丰[1,2] ZHAO Le;XU Lei-lei;WANG Shou-feng(Drum Tower Clinical College,Nanjing Medical University,Nanjing 211200,China;Department of Orthopaedics,Drum Tower Hospital,Medical School,Nanjing University,Nanjing 211200,China;Orthopaedic Department,People's Hospital of Lishui District,Nanjing 210008,China)

机构地区：[1]南京医科大学鼓楼临床医学院,江苏南京210000 [2]南京大学医学院附属鼓楼医院骨科,江苏南京210000 [3]南京市溧水区人民医院骨科,江苏南京211200

出　　处：《中国矫形外科杂志》2024年第17期1600-1604,共5页Orthopedic Journal of China

基　　金：白求恩公益基金“恒学精进-医学研究”项目。

摘　　要：[目的]通过转录组测序和生物信息学分析寻找骨肉瘤发生的关键基因和相关通路。[方法]收集骨肉瘤组织和癌旁对照组织,通过转录组芯片建立表达谱并筛选差异性表达基因(differentially expressed genes,DEGs)。利用在线数据库对DEGs进行基因本体(gene ontology,GO)和京都基因与基因组百科全书(kyoto encyclopedia of genes and genomes,KEGG)富集分析。[结果]本研究共纳入5对骨肉瘤和癌旁对照组织,共筛选出1211个在肿瘤组织中表达显著上调和810个显著下调的基因。表达量上调最多的5个基因依次为COL1A1(collagen type I alpha 1 chain)、SPP1(secreted phosphoprotein 1)、POSTN(periostin)、TYMS(thymidylate synthetase)和TNC(tenascin C);表达量下调最多的5个基因依次为ATP1A2(ATPase,Na+/K+transporting,alpha 2 polypeptide)、PDK4(pyruvate dehydrogenase kinase,isozyme 4)、CLIC5(chloride intracellular channel 5)、ACTA1(actin,alpha 1,skeletal muscle)和FABP4(fatty acid binding protein 4)。GO富集分析提示DEGs主要富集于组织发育、小分子代谢过程和细胞周期等生物过程,KEGG富集分析提示DEGs主要涉及黏着斑、细胞外基质受体相互作用、癌症信号通路和细胞周期相关通路。[结论]COL1A1、SPP1、POSTN、TYMS、TNC、ATP1A2、PDK4、CLIC5、ACTA1和FABP4基因可能在骨肉瘤的发生发展中起重要调控作用。[Objective]Transcriptome sequencing and bioinformatics analysis were used to identify key genes and related pathways in osteosarcoma.[Methods]The osteosarcoma tissues and adjacent control tissues were collected to analyze the expression profiles by transcriptome microarray and differential expression genes(DEGs).The Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis of DEGs was performed through online database.[Results]A total of 5 pairs of osteosarcoma and para-tumor control tissues were included in this study.A total of 1211 genes with significantly up-regulated expression and 810 significantly down-regulated expression were screened in tumor tissues.GO analysis suggested that DEGs was mainly concentrated in biological processes such as tissue development,small molecule metabolism and cell cycle,while KEGG analysis suggested that DEGs was mainly involved in adhesion plaques,extracellular matrix receptor interactions,cancer signaling pathways and cell cycle related pathways.[Conclusion]COL1A1,SPP1,POSTN,TYMS,TNC,ATP1A2,PDK4,CLIC5,ACTA1 and FABP4 may play an important role in the development of osteosarcoma.

关 键 词：骨肉瘤 转录组 基因 信号通路 测序 

分 类 号：R738.1[医药卫生—肿瘤]