Primary biliary cholangitis (PBC) is an autoimmune liver disease characterized by cholestasis and cirrhosis, and in which hepatic failure may occur. This study explores the changes in the gene expression profiles of liver tissues during the pathogenesis of PBC. Array dataset GSE79850 was downloaded from the Gene Expression Omnibus database. GeneSpring software was used to analyze differentially expressed genes (DEGs) in liver tissues from PBC patients compared with those from controls. Gene ontology (GO) annotation, the Kyoto Encyclopedia of Genes and Genomes (KEGG), and Reactome pathway enrichment analyses were performed by using Database for Annotation, Visualization and Integrated Discovery (DAVID) software. Cytoscape software was used to construct a protein–protein interaction (PPI) network. Plug-ins Molecular Complex Detection and iRegulon were used for clustering analysis and transcription factors related to key genes with PBC. A total of 77 DEGs, including 47 up- and 30 downregulated genes, were identified. The PPI network was established with 74 nodes and 356 protein pairs. The C-C motif chemokine ligand 5 (CCL5), interleukin 7 receptor (IL7R), and TNF receptor superfamily member 1A (TNFRSF1A) were identified as hub genes in the PPI network and may, therefore, be marker genes for PBC. Further, the upregulated genes CCL5 and IL7R, and downregulated TNFRSF1A were included in immune system processes as a GO term in the category Biological Processes. In conclusion, CCL5, IL7R, TNFRSF1A, and the immune response pathway may have crucial roles in PBC. These genes and pathways may be potential targets for treating PBC.

中文翻译：

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原发性胆汁性胆管炎患者标志基因和通路的鉴定。

原发性胆汁性胆管炎(primary biliary cholangitis, PBC)是一种以胆汁淤积和肝硬化为特征的自身免疫性肝病，可能发生肝功能衰竭。本研究探讨了 PBC 发病过程中肝组织基因表达谱的变化。阵列数据集 GSE79850 从基因表达综合数据库下载。GeneSpring 软件用于分析 PBC 患者肝组织中与对照组相比的差异表达基因 (DEG)。使用数据库进行注释、可视化和集成发现 (DAVID) 软件进行基因本体 (GO) 注释、京都基因和基因组百科全书 (KEGG) 和反应组通路富集分析。Cytoscape 软件用于构建蛋白质-蛋白质相互作用（PPI）网络。Plug-ins Molecular Complex Detection和iRegulon用于聚类分析和与PBC关键基因相关的转录因子。共鉴定出 77 个 DEG，包括 47 个上调基因和 30 个下调基因。PPI 网络由 74 个节点和 356 个蛋白质对建立。CC 基序趋化因子配体 5 (CCL5 )、白细胞介素 7 受体 ( IL7R ) 和 TNF 受体超家族成员 1A (TNFRSF1A) 被鉴定为 PPI 网络中的枢纽基因，因此可能是 PBC 的标记基因。此外，上调的基因CCL5和IL7R以及下调的TNFRSF1A作为生物过程类别中的 GO 术语包括在免疫系统过程中。总之，CCL5、IL7R、TNFRSF1A和免疫反应通路可能在 PBC 中起关键作用。这些基因和途径可能是治疗 PBC 的潜在靶点。