School of Public Health, Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China.
Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China.
Medicine (Baltimore). 2022 Dec 30;101(52):e32603. doi: 10.1097/MD.0000000000032603.
The study was aimed to analyze the potential gene modules and hub genes of Duchenne muscular dystrophy (DMD) by weighted gene co-expression network analysis.
Based on the muscular dystrophy tissue expression profiling microarray GSE13608 from gene expression omnibus, gene co-expression modules were analyzed using weighted gene co-expression network analysis, gene modules related to DMD were screened, gene ontology and Kyoto encyclopedia of genes and genomes enrichment analyses were performed, and signature genes in the modules were screened. The protein-protein interaction network was constructed through Cytoscape, and hub genes were identified. The expression of hub genes in DMD versus normal muscle tissue was calculated in GSE6011.
12 co-expressed gene modules were identified, among which black module was significantly related to DMD. The characteristic genes in the module were enriched in the regulation of immune effector processes, immune response mediated by immunoglobulin, immune response mediated by B cells, etc. SERPING1, F13A1, C1S, C1R, and HLA-DPA1 were considered as hub genes in protein-protein interaction network. Analysis of GSE6011 shows that expression of SERPING1, F13A1, C1S, C1R, and HLA-DPA1 in tissues of DMD patients were higher than normal.
SERPING1, F13A1, C1S, C1R, and HLA-DPA1 may participate in the development of DMD by regulating innate immunity and inflammation, and they are expected to be a potential biomarker and novel therapeutic targets for DMD.
本研究旨在通过加权基因共表达网络分析，分析杜氏肌营养不良症（DMD）的潜在基因模块和枢纽基因。
基于基因表达综合数据库中的肌肉营养不良组织表达谱微阵列 GSE13608，采用加权基因共表达网络分析对基因共表达模块进行分析，筛选与 DMD 相关的基因模块，进行基因本体和京都基因与基因组百科全书富集分析，筛选模块中的特征基因。通过 Cytoscape 构建蛋白质-蛋白质相互作用网络，并鉴定枢纽基因。在 GSE6011 中计算 DMD 与正常肌肉组织中枢纽基因的表达。
鉴定出 12 个共表达基因模块，其中黑色模块与 DMD 显著相关。模块中的特征基因富集在免疫效应过程的调节、免疫球蛋白介导的免疫反应、B 细胞介导的免疫反应等过程。SERPING1、F13A1、C1S、C1R 和 HLA-DPA1 被认为是蛋白质-蛋白质相互作用网络中的枢纽基因。GSE6011 分析表明，DMD 患者组织中 SERPING1、F13A1、C1S、C1R 和 HLA-DPA1 的表达高于正常。
SERPING1、F13A1、C1S、C1R 和 HLA-DPA1 可能通过调节固有免疫和炎症参与 DMD 的发生，有望成为 DMD 的潜在生物标志物和新的治疗靶点。
