Dermatomyositis is an autoimmune disease characterized by severe symmetrical muscle dysfunction and pain. This study was aimed at discovering vital hub genes and potential molecular pathways of DM through bioinformatics analysis, which contributes to identifying potential diagnostic or therapeutic biomarkers and targets. In this study, a total of 915 DEGs in DM samples including 167 upregulated genes and 748 downregulated genes were screened out by the limma package based on the GSE142807 dataset from the Gene Expression Omnibus (GEO) database. Furthermore, the results of Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis indicated that these downregulated genes were highly associated with the immune-related biological processes and pathways. Therefore, 41 genes closely related to DM were extracted for further study based on the subcluster analysis through the Molecular Complex Detection (MCODE) software plugin in Cytoscape. Ultimately, 10 hub genes (including ISG15, DDX58, IFIT3, CXCL10, and STAT1) were identified as the potential candidate biomarkers and targets. Besides, we found that the identified hub genes directly or indirectly communicated with each other via molecular signaling pathways on the protein and transcription level. In general, under the guidance of bioinformatics analysis, 10 vital hub genes and molecular mechanisms in DM were identified and the expression of proinflammatory factors and interferon family proteins and genes showed high association with DM, which might help provide a theoretical foundation for the development of point-to-point targeted therapy in the future treatment of DM.

中文翻译：

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通过生物信息学分析鉴定皮肌炎的重要中枢基因和潜在的分子途径

皮肌炎是一种以严重的对称性肌肉功能障碍和疼痛为特征的自身免疫性疾病。本研究旨在通过生物信息学分析发现 DM 的重要枢纽基因和潜在分子途径，有助于确定潜在的诊断或治疗生物标志物和靶点。本研究基于基因表达综合数据库（GEO）数据库中的GSE142807数据集，通过limma包筛选出DM样本中的915个DEG，包括167个上调基因和748个下调基因。此外，基因本体论（GO）和京都基因和基因组百科全书（KEGG）通路富集分析的结果表明，这些下调的基因与免疫相关的生物学过程和通路高度相关。所以，通过 Cytoscape 中的分子复合物检测 (MCODE) 软件插件，在亚簇分析的基础上，提取了 41 个与 DM 密切相关的基因进行进一步研究。最终，10 个中枢基因（包括 ISG15、DDX58、IFIT3、CXCL10 和 STAT1）被确定为潜在的候选生物标志物和靶标。此外，我们发现已鉴定的中枢基因通过蛋白质和转录水平的分子信号通路直接或间接地相互交流。总体而言，在生物信息学分析的指导下，确定了 10 个重要的 DM 中枢基因和分子机制，促炎因子和干扰素家族蛋白和基因的表达与 DM 高度相关，