Department of Urology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Department of Presbyatric, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Horm Metab Res. 2022 May;54(5):288-293. doi: 10.1055/a-1804-6047. Epub 2022 May 9.
This study explores the core genes involved in the pathogenesis of ACTH-independent macronodular adrenal hyperplasia (AIMAH), so as to provide robust biomarkers for the clinical diagnosis and treatment of this disease. Gene Expression Omnibus (GEO) database was used to obtain GSE25031 microarray dataset. R package "limma" was applied to identify differentially expressed genes (DEGs) between AIMAH and normal samples. The Database for Annotation, Visualization and Integrated Discovery (DAVID) was employed to perform Gene Ontology (GO) annotation for the DEGs, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis was conducted. A protein-protein interaction network (PPI) was constructed using the STRING online website and visualized using the Cytoscape software. The key modules and hub genes were then identified. Finally, Gene Set Enrichment Analysis (GESA) enrichment analysis was carried out to find the signaling pathways of significant clinical value in AIMAH. A total of 295 DEGs between AIMAH and healthy samples were screened out, including 164 upregulated genes and 131 downregulated genes. Combining enrichment analysis and PPI network construction, there were 5 signifiant pathways and 10 hub genes, among which 3 genes (FOS, FOSB, and DUSP1) were identified as potential core genes of clinical significance in AIMAH. In conclusion, the 3 core genes, FOS, FOSB, and DUSP1, identified here might be potential biomarkers for AIMAH, and the current study is of guiding significance for clinical diagnosis and treatment of this disease.
本研究旨在探讨 ACTH 非依赖性大结节性肾上腺增生症（AIMAH）发病机制中的核心基因，为该疾病的临床诊断和治疗提供可靠的生物标志物。我们使用基因表达综合数据库（GEO）获取 GSE25031 微阵列数据集。应用 R 包“limma”识别 AIMAH 与正常样本之间的差异表达基因（DEGs）。利用基因本体论（GO）注释数据库（DAVID）对 DEGs 进行基因功能注释，并进行京都基因与基因组百科全书（KEGG）通路富集分析。使用 STRING 在线网站构建蛋白质-蛋白质相互作用网络（PPI），并使用 Cytoscape 软件可视化。然后确定关键模块和枢纽基因。最后，进行基因集富集分析（GESA）富集分析，以找到在 AIMAH 中具有重要临床价值的信号通路。共筛选出 AIMAH 与健康样本之间的 295 个差异表达基因，包括 164 个上调基因和 131 个下调基因。结合富集分析和 PPI 网络构建，有 5 个显著通路和 10 个枢纽基因，其中 3 个基因（FOS、FOSB 和 DUSP1）被确定为 AIMAH 中具有潜在临床意义的核心基因。总之，本研究鉴定的 3 个核心基因 FOS、FOSB 和 DUSP1 可能是 AIMAH 的潜在生物标志物，对该疾病的临床诊断和治疗具有指导意义。
