基于生物信息学分析基底细胞癌的基因表达及信号传导通路  

Bioinformatics Analysis of Gene Expression and Signaling Pathways in Basal Cell Carcinoma

作　　者：王达 王丽欣[1] 陈官芝[1] 

机构地区：[1]青岛大学附属医院皮肤科,山东 青岛

出　　处：《临床医学进展》2020年第8期1782-1790,共9页Advances in Clinical Medicine

摘　　要：目的:通过生物信息学的方法分析皮肤基底细胞癌(BCC)的差异基因和关键通路,明确差异基因的功能、参与的信号传导通路,筛选出枢纽基因,从分子水平为研究BCC的发病机制提供候选基因。方法:从Gene Expression Omnibus (GEO)数据库中下载GSE125285的基因表达数据,利用DAVID数据库及R语言的Limma包对差异基因进行基因本体分析(GO分析)和基因组数据库的通路分析(KEGG分析),并应用Cytoscape3.8.0软件构建差异基因相互作用网络,筛选枢纽基因。结果:总共筛选获得了653个差异基因,其中表达上调的基因387个,表达下调的基因266个。GO本体分析表明差异基因主要参与了胶原蛋白的分解代谢过程、细胞外基质的组成以及氧化还原过程,KEGG信号通路富集分析主要包括了蛋白质的消化和吸收、Hedgehog信号通路及过氧化物酶体增殖物激活受体通路等。筛选获得了前10位关键基因MYC,IL6,PPARG,FOS,LEP,EGR1,COL1A1,NTRK3,SPP1及ADIPOQ。结论:多基因变异所导致的蛋白质代谢及氧化还原反应等多通路异常可能参与BCC的发生及疾病进展。Objective: To determine abnormally expressed genes in basal cell carcinoma (BCC), examine the function of the differentially expressed genes and the signaling pathways in which they are involved, and identify functional hub genes using gene expression analysis, and to investigate the molecular mechanism of BCC pathogenesis. Methods: The gene expression data of GSE125285 were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes were analyzed by Gene body (GO) analysis and Kyoto Encyclopedia of Genes (KEGG) pathway analysis, and the protein interaction network of differential Gene products was constructed by Cytoscape3.8.0 to identify the functional hub genes. Result: Of the 653 screened in BCC, 387 genes were up-regulated and 266 genes were down-regulated. GO analysis showed that the differentially expressed genes were mainly involved in biological processes of collagen breakdown, composition of extracellular matrix and the process of oxidation-reduction. KEGG pathway analysis revealed that the differentially expressed genes were mainly enriched in the digestibility of protein, the pathway of Hedgehog signal transduction and peroxisome proliferators’ receptor activation. MYC, IL6, PPARG, FOS, LEP, EGR1, COL1A1, NTRK3, SPP1 and ADIPOQ were identified as the top 10 hub genes by the protein interaction network. Conclusion: Abnormalities in protein metabolism, REDOX reactions and Hedgehog signal transduction by polygenic variation may be involved in the development and progression of BCC.

关 键 词：基底细胞癌 皮肤 差异表达基因 生物信息学 

分 类 号：R73[医药卫生—肿瘤]