Yang Xingyao, Du Zhangzhen, Xing Shuxing
Department of Orthopaedics, Chengdu Fifth People's Hospital, Chengdu, 611130, China.
Sci Rep. 2025 Jan 2;15(1):374. doi: 10.1038/s41598-024-83231-8.
Osteoporosis and sarcopenia are common diseases in the older. This study aims to use transcriptomics and explore common diagnostic genes of osteoporosis and sarcopenia and predict potentially effective treatment drugs. Three datasets for osteoporosis and sarcopenia were downloaded from the GEO database, and transcriptome sequencing was performed on clinical samples. A total of 23 differentially expressed genes (DEGs) were selected using the LIMMA, WGCNA, and the DEseq2 package. Three machine learning methods were employed to determine the final common diagnostic genes for the diseases. Receiver operating characteristic (ROC) curves were used to evaluate the predictive performance of genes. Single-gene enrichment analysis (GSEA), immune infiltration abundance calculation, and related metabolic analysis were used to study the pathogenesis of the two diseases. Finally, the CMap database was used to predict potential therapeutic drugs for the diseases, and further validation was conducted through RT-PCR and WB. Three genes for the diseases CHST3, PGBD5, and SLIT2 were identified, showing good predictive performance in both internal and external validations. GSEA analysis revealed that genes were enriched primarily in pathways related to cell cycle regulation, fatty acid metabolism, DNA replication, and carbohydrate synthesis. CHST3 and SLIT2 were involved in the immune response, but PGBD5 seemed unrelated to the immune response. Potential therapeutic drugs were predicted, and the RT-PCR, WB results further validated our hypotheses. CHST3, PGBD5, and SLIT2 can serve as potential genes for the diagnosis and treatment of osteoporosis and sarcopenia; furthermore, these results provide new clues for further experimental research and treatment.
骨质疏松症和肌肉减少症是老年人的常见疾病。本研究旨在利用转录组学探索骨质疏松症和肌肉减少症的共同诊断基因,并预测潜在的有效治疗药物。从GEO数据库下载了三个骨质疏松症和肌肉减少症的数据集,并对临床样本进行了转录组测序。使用LIMMA、WGCNA和DEseq2软件包共筛选出23个差异表达基因(DEG)。采用三种机器学习方法确定这两种疾病的最终共同诊断基因。受试者工作特征(ROC)曲线用于评估基因的预测性能。单基因富集分析(GSEA)、免疫浸润丰度计算和相关代谢分析用于研究这两种疾病的发病机制。最后,利用CMap数据库预测这两种疾病的潜在治疗药物,并通过RT-PCR和WB进行进一步验证。确定了CHST3、PGBD5和SLIT2这三个与疾病相关的基因,它们在内部和外部验证中均表现出良好的预测性能。GSEA分析显示,这些基因主要富集在与细胞周期调控、脂肪酸代谢、DNA复制和碳水化合物合成相关的通路中。CHST3和SLIT2参与免疫反应,但PGBD5似乎与免疫反应无关。预测了潜在的治疗药物,RT-PCR和WB结果进一步验证了我们的假设。CHST3、PGBD5和SLIT2可作为骨质疏松症和肌肉减少症诊断和治疗的潜在基因;此外,这些结果为进一步的实验研究和治疗提供了新线索。