COL1A2 as a diagnostic and predictive marker in osteoarthritis and the immune infiltration mechanism of osteoarthritis
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摘要:
目的 骨关节炎(OA)是一种常见的退行性关节疾病, 目前对其发病机制尚不完全清楚。本研究旨在探讨OA的关键诊断标记物和免疫微环境在疾病发展中的作用，以期为OA的诊断和治疗策略提供参考和帮助。 方法 使用Gene expression omnibus(GEO)数据库中的OA软骨基因表达数据集GSE169077进行分析研究，并使用基因表达数据集GSE55235进行关键诊断标记基因的验证筛选，同时分析数据中的免疫细胞浸润表达。 结果 经过数据分析共获得402个差异表达基因，包括230个上调表达基因和172个下调表达基因。经过筛选验证后，最终得到1个关键诊断标记基因，即COL1A2。结合免疫细胞浸润分析后发现，中性粒细胞、树突状细胞、NK细胞、T细胞、单核细胞、巨噬细胞在OA免疫微环境中高度表达。 结论 本研究发现COL1A2基因可能是OA的关键诊断标记基因，COL1A2可能通过细胞外基质受体通路和黏着斑信号通路等途径发挥生物学效应，中性粒细胞、树突状细胞、NK细胞、T细胞等免疫细胞在OA的免疫微环境变化中发挥着重要的作用。本研究结果有助于深入理解OA的发病机制，为其诊断与治疗提供参考依据。 Abstract:Objective Osteoarthritis (OA) is a common degenerative joint disease, but its pathogenesis remains largely unclear. This study aimed to explore the key diagnostic markers and immune microenvironment involved in the development of OA, in order to provide references and assistance for diagnosis and treatment strategies of OA. Methods Gene expression datasets GSE169077 and GSE55235 from Gene expression omnibus (GEO) database were analyzed to identify key diagnostic marker genes and detect immune cell infiltration in OA. Results A total of 402 differentially expressed genes were obtained, including 230 up-regulated genes and 172 down-regulated genes. After screening and verification, COL1A2 was identified as a key diagnostic marker gene. Analysis of immune cell infiltration showed that neutrophils, dendritic cells, NK cells, T cells, monocytes and macrophages were highly expressed in the OA immune microenvironment. Conclusion This study finds that COL1A2 gene may be a key diagnostic marker for OA. COL1A2 may exert biological effects through extracellular matrix (ECM) receptor pathway, focal adhesion (FA) signaling pathway, etc. Neutrophils, dendritic cells, NK cells, T cells and other immune cells play an important role in the immune microenvironment changes of OA. The results help to further understand the pathogenesis of OA and provide a reference for diagnosis and treatment. -
Key words:
- Osteoarthritis /
- Diagnostic marker /
- COL1A2 /
- Immune infiltration
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图 1 数据集差异基因分析
注：A为差异基因火山图，图中绿色表示表达下调的差异基因，红色表示表达上调的差异基因；B为样本基因分布图(uniform manifold approximation and projection，UMAP)，图示不同组别的样本基因差异有统计学意义。
Figure 1. Results of differential gene analysis in dataset
图 3 富集分析结果图
注：A为GO富集分析结果；B为KEGG富集分析通路气泡图。
Figure 3. Results of enrichment analysis and PPI network analysis
图 4 Cytohubba、LASSO分析及ROC验证图
注：A为LASSO回归模拟图；B为两项数据分析结果的韦恩交集图；C为COL1A2的ROC曲线图。
Figure 4. Cytohubba and LASSO analysis and ROC validation results
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