生物信息学分析筛选静脉血栓栓塞症的关键基因和通路  

Bioinformatics analysis for screening key genes and pathways of venous thromboembolism

作　　者：李亚晶 邓洪儒[1] 陈雷 李明轩 王华伟 Li Yajing;Deng Hongru;Chen Lei;Li Mingxuan;Wang Huawei(Department of Vascular Surgery,Fuxing Hospital,Capital Medical University(FXH-CMU),Beijing 100038,China)

机构地区：[1]首都医科大学附属复兴医院血管外科,北京100038

出　　处：《血管与腔内血管外科杂志》2025年第2期191-196,共6页Journal of Vascular and Endovascular Surgery

摘　　要：目的通过采用集成的生物信息学工具探索新的静脉血栓栓塞症(VTE)生物标志物和潜在的治疗靶点。方法利用基因表达综合数据库(GEO)获取VTE患者和非VTE患者的基因数据。应用R4.2.0软件中的limma程序包筛选差异表达基因(DEG),应用R4.2.0软件中的BioConductor和GOplot软件包进行功能和途径的分析。使用STRING数据库、Cytoscape软件及其插件筛选关键的DEG,并使用R软件包“pROC”构建受试者操作特征(ROC)曲线对核心基因进行验证。结果经过筛选,共获得1514个DEG。基因本体论(GO)分析表明DEG主要在线粒体、核糖体、线粒体核糖体、线粒体翻译延伸与终止、核糖体的结构成分等中富集。京都基因和基因组百科全书(KEGG)通路分析结果表明,这些基因在核糖体、癌症相关通路、破骨细胞分化、皮质醇的合成和分泌等中富集。在这些DEG中经Cytohubba筛选得到10个核心基因靶点,并且均存在于分数大于10的2个模块中。然后经过ROC曲线验证保留7个具有较好诊断VTE价值的核心基因:线粒体核糖蛋白(MRP)L13、线粒体核糖体蛋白L58(MRPL58,又称ICT1)、MRPL14、MRPL2、MRPL30、MRPL9、MRPL12。结论本研究确定了7个DEG可作为诊断VTE的潜在候选生物标志物,还需要进一步的实验确认与VTE相关的功能通路和关键基因。Objective To explore new biomarkers and potential therapeutic targets of venous thromboembolism(VTE)by using integrated bioinformatics tools.Method The gene data of VTE patients and non VTE patients were obtained by gene expression omnibus(GEO)database.The limma package in R 4.2.0 software was used to screen differentially expressed gene(DEG),Bioconductor and GOplot software packages in R 4.2.0 software were used to analyze functions and approaches.The string database,Cytoscape software and its plug-ins to screen key DEG,and R software package"pROC"were used to construct receiver operator characteristic(ROC)curve to verify core genes.Result After screening,1514 DEG were obtained.Gene Ontology(GO)analysis shows that DEG are mainly enriched in mitochondria,ribosomes,mitochondrial ribosomes,mitochondrial translation extension and termination,structural components of ribosomes,and so on.The pathway analysis results of Kyoto Encyclopedia of genes and genomes(KEGG)show that these genes are enriched in ribosomes,cancer-related pathways,osteoclast differentiation,cortisol synthesis and secretion,and so on.Among these DEG,10 core gene targets were screened by Cytohubba,and all existed in 2 modules with scores greater than 10.After ROC curve verification,7 core genes with good diagnostic value for VTE were retained:mitochondrial ribosomal protein(MRP)L13,mitochondrial ribosomal protein L58(MRPL58,also known as ICT1),MRPL14,MRPL2,MRPL30,MRPL9,MRPL45,MRPL12.Conclusion Seven DEG were identified as potential biomarkers for the diagnosis of VTE.However,further experiments are needed to confirm the functional pathways and key genes related to VTE.

关 键 词：生物信息学 静脉血栓栓塞症 差异表达基因 蛋白质-蛋白质相互作用 富集分析 

分 类 号：R543[医药卫生—心血管疾病]