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基于GEO数据库筛选系统性红斑狼疮关键基因及其致病机制研究OA

Exploring Systemic Lupus Erythematosus Disease-related Genes and its Pathogenic Mechanism Based on GEO Database

中文摘要英文摘要

目的 筛选系统性红斑狼疮疾病发生发展过程中的关键基因,探索其致病及调控机制,并评估其临床应用价值.方法 在基因表达综合数据库(GEO)下载系统性红斑狼疮全血样本的RNA-Seq数据集GSE112087,通过R软件limma包筛选SLE全血样本表达水平上调的基因;利用R软件包org.Hs.eg.db和clusterProfiler进行GO和KEGG功能富集分析;基于String数据库和Cytoscape软件进行蛋白质互作网络构建其子网络定位挖掘关键基因;通过SPSSPRO进行逐步回归筛选出疾病进程中的关键基因.结果 从系统性红斑狼疮患者全血样本中筛选出表达水平上调的基因112个;上述基因主要富集于免疫应答、Ⅰ型干扰素信号通路、肿瘤坏死因子信号通路、RLR信号通路;基于所构建的蛋白质互作网络定位到9个核心基因:IFI44L、IFI44、IFIT3、ISG15、RSAD2、IFIH1、MX1、OAS1 和 OAS2.通过 SPSSPRO 逐步回归得到 SLE 疾病中的关键基因:IFIT3 和 ISG15.结论 IFIT3和ISG15是系统性红斑狼疮疾病进展中的关键基因,在疾病的诊疗中有望成为新的生物标志物和分子治疗靶点.

Objective To screen key genes in the occurrence and development of systemic lupus erythematosus,explore its pathogenic and regulatory mechanisms,and evaluate the clinical application value.Methods Based on the Gene Expression Omnibus(GEO),the RNA-Seq dataset GSE112087 of systemic lupus erythematosus whole blood samples was downloaded,and the genes upregulated in SLE whole blood samples were screened by the limma package of R software;GO and KEGG functional enrichment analysis was performed by using the org.Hs.eg.db and clusterProfiler packages of R software;Protein interaction network was constructed based on the String database and Cytoscape software to locate key genes in its subnetwork;stepwise regression was performed by SPSSPRO to screen out the key genes in the disease process.Results A total of 112 genes were up-regulated in the whole blood samples of patients with systemic lupus erythematosus.The above genes were mainly enriched with immune response,type Ⅰinterferon signaling pathway,tumor necrosis factor signaling pathway,and RLR signaling pathway.The core genes of protein interaction network were located in the protein interaction network:IFI44L,IFI44,IFIT3,ISG15,RSAD2,IFIH1,MX1,OAS1 and OAS2.Two genes were obtained by stepwise regression of SPSS:IFIT3 and ISG15.Conclusion IFIT3 and ISG15 are key genes in the progression of systemic lupus erythematosus,and are expected to become new biomarkers and molecular therapeutic targets in the diagnosis and treatment of the disease.

楼爽;郭伟权;于帆;国世星;周义文

南方医科大学深圳医院临床检验医学中心,广东 深圳 518000南方医科大学深圳医院临床检验医学中心,广东 深圳 518000南方医科大学深圳医院临床检验医学中心,广东 深圳 518000南方医科大学深圳医院临床检验医学中心,广东 深圳 518000南方医科大学深圳医院临床检验医学中心,广东 深圳 518000

医药卫生

系统性红斑狼疮基因表达综合数据库干扰素刺激基因生物信息学

Systemic lupus erythematosusGene Expression OmnibusInterferon-stimulated genesBioinformatics

《医学信息》 2026 (18)

9-14,6

宝安区医疗卫生科研项目(编号:2024JD131)

10.3969/j.issn.1006-1959.2026.18.002

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