Functional investigation and two-sample Mendelian randomization study of primary biliary cholangitis hub genes  

作　　者：Yun-Chuan Yang Xiang Ma Chi Zhou Nan Xu Ding Ding Zhong-Zheng Ma Lei Zhou Pei-Yuan Cui 

机构地区：[1]Department of Hepatobiliary Surgery,The First Affiliated Hospital of Bengbu Medical University,Bengbu 233000,Anhui Province,China [2]Medical College,Jinan University,Guangzhou 510000,Guangdong Province,China [3]Department of General Surgery,The First Affiliated Hospital of Bengbu Medical College,Bengbu 233000,Anhui Province,China

出　　处：《World Journal of Clinical Cases》2024年第30期6391-6406,共16页世界临床病例杂志

基　　金：Supported by School-Level Key Projects at Bengbu Medical College,No.2021byzd109。

摘　　要：BACKGROUND The identification of specific gene expression patterns is crucial for understanding the mechanisms underlying primary biliary cholangitis(PBC)and finding relevant biomarkers for diagnosis and therapeutic evaluation.AIM To determine PBC-associated hub genes and assess their clinical utility for disease prediction.METHODS PBC expression data were obtained from the Gene Expression Omnibus database.Overlapping genes from differential expression analysis and weighted gene coexpression network analysis(WGCNA)were identified as key genes for PBC.Kyoto Encyclopedia of Genes and Genomes and Gene Ontology analyses were performed to explore the potential roles of key genes.Hub genes were identified in protein-protein interaction(PPI)networks using the Degree algorithm in Cytoscape software.The relationship between hub genes and immune cells was investigated.Finally,a Mendelian randomization study was conducted to determine the causal effects of hub genes on PBC.RESULTS We identified 71 overlapping key genes using differential expression analysis and WGCNA.These genes were primarily enriched in pathways related to cytokinecytokine receptor interaction,and Th1,Th2,and Th17 cell differentiation.We utilized Cytoscape software and identified five hub genes(CD247,IL10,CCL5,CCL3,and STAT3)in PPI networks.These hub genes showed a strong correlation with immune cell infiltration in PBC.However,inverse variance weighting analysis did not indicate the causal effects of hub genes on PBC risk.CONCLUSION Hub genes can potentially serve as valuable biomarkers for PBC prediction and treatment,thereby offering significant clinical utility.

关 键 词：Primary biliary cholangitis Weighted gene co-expression network analysis Hub genes Mendelian randomization Bioinformatic analysis 

分 类 号：R575.7[医药卫生—消化系统]