Liu Muzi, Gong Shiguo, Sheng Xin, Zhang Zihong, Wang Xichun
Jiujiang No.1 People's Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, China.
The First Affiliated Hospital of Nanchang University, Department of Orthopedics, Nanchang, China.
J Int Soc Sports Nutr. 2025 Dec;22(1):2454641. doi: 10.1080/15502783.2025.2454641. Epub 2025 Jan 23.
The aim of this study was to identify the key regulatory mechanisms of cartilage injury and osteoporosis through bioinformatics methods, and to provide a new theoretical basis and molecular targets for the diagnosis and treatment of the disease.
Microarray data for cartilage injury (GSE129147) and osteoporosis (GSE230665) were first downloaded from the GEO database. Differential expression analysis was applied to identify genes that were significantly up-or down-regulated in the cartilage injury and osteoporosis samples. These genes were subjected to GO enrichment analysis and KEGG pathway analysis. In addition, we employed SVA and RRA methods to merge the two sets of data, eliminating batch effects and enhancing the statistical power of the analysis. Through WGCNA, we identified gene modules that were closely associated with disease phenotypes and then screened for key genes that intersected with differentially expressed genes. The diagnostic value of these genes as potential biomarkers was evaluated by ROC analysis. Moreover, we performed an immune infiltration analysis to explore the correlation between these core genes and immune cell infiltration.
We performed GO enrichment analysis and KEGG pathway analysis of genes significantly up-or down-regulated in cartilage injury and osteoporosis samples. Important biological processes, cellular components and molecular functions, and key metabolic or signaling pathways associated with osteoporosis and cartilage injury were identified. Through WGCNA, we identified gene modules that were closely associated with the disease phenotype, from which we then screened for key genes that intersected with differentially expressed genes. Ultimately, we focused on two identified core genes, COL1A1 and TNFRSF12A, and assessed the diagnostic value of these genes as potential biomarkers by ROC analysis. Meanwhile, GSVA provided an in-depth view of the role of these genes in disease-specific biological pathways. Immune infiltration analysis further revealed the possible key role of COL1A1 and TNFRSF12A in regulating immune cell infiltration in osteoporosis and cartilage injury.
COL1A1 and TNFRSF12A as key regulatory molecules in osteoporosis and cartilage injury.
本研究旨在通过生物信息学方法确定软骨损伤和骨质疏松症的关键调控机制，为该疾病的诊断和治疗提供新的理论依据和分子靶点。
首先从GEO数据库下载软骨损伤（GSE129147）和骨质疏松症（GSE230665）的微阵列数据。应用差异表达分析来鉴定在软骨损伤和骨质疏松症样本中显著上调或下调的基因。对这些基因进行GO富集分析和KEGG通路分析。此外，我们采用SVA和RRA方法合并这两组数据，消除批次效应并增强分析的统计效力。通过WGCNA，我们确定了与疾病表型密切相关的基因模块，然后筛选出与差异表达基因相交的关键基因。通过ROC分析评估这些基因作为潜在生物标志物的诊断价值。此外，我们进行了免疫浸润分析，以探索这些核心基因与免疫细胞浸润之间的相关性。
我们对在软骨损伤和骨质疏松症样本中显著上调或下调的基因进行了GO富集分析和KEGG通路分析。确定了与骨质疏松症和软骨损伤相关的重要生物学过程、细胞成分和分子功能，以及关键的代谢或信号通路。通过WGCNA，我们确定了与疾病表型密切相关的基因模块，从中筛选出与差异表达基因相交的关键基因。最终，我们聚焦于两个确定的核心基因COL1A1和TNFRSF12A，并通过ROC分析评估这些基因作为潜在生物标志物的诊断价值。同时，GSVA深入了解了这些基因在疾病特异性生物途径中的作用。免疫浸润分析进一步揭示了COL1A1和TNFRSF12A在调节骨质疏松症和软骨损伤中免疫细胞浸润方面可能的关键作用。
COL1A1和TNFRSF12A是骨质疏松症和软骨损伤中的关键调控分子。
