Department of Bone and Joint Surgery, The Second Affiliated Hospital of Xian Jiaotong University, Xi'an, Shaanxi, China.
Department of Orthopedics, Honghui Hospital, Xi'an, Shaanxi, China.
Int Immunopharmacol. 2024 Aug 20;137:112431. doi: 10.1016/j.intimp.2024.112431. Epub 2024 Jun 18.
Osteoarthritis (OA), a degenerative joint disorder, has an unclear immune infiltration mechanism in subchondral bone (SCB). Thus, this study aims to discern immune infiltration variations in SCB between early- and late-stages of OA and identify pertinent biomarkers. Utilizing the GSE515188 bulk-seq profile from the Gene Expression Omnibus database, we performed single-sample gene-set enrichment analysis alongside weighted gene co-expression network analysis to identify key cells and immune-related genes (IRGs) involved in SCB at both stages. At the meanwhile, differentially expressed genes (DEGs) were identified in the same dataset and intersected with IRGs to find IR-DEGs. Protein-protein interaction network and enrichment analyses and further gene filtering using LASSO regression led to the discovery of potential biomarkers, which were then validated by ROC curve analysis, single-cell RNA sequencing, qRT-PCR, western blot and immunofluorescence. ScRNA-seq analysis using GSE196678, qRT-PCR, western blot and immunofluorescence results confirmed the upregulation of their expression levels in early-stage OA SCB samples. Our comprehensive analysis revealed lymphocytes infiltration as a major feature in early OA SCB. A total of 13 IR-DEGs were identified, showing significant enrichment in T- or B-cell activation pathways. Three of them (CD247, POU2AF1, and TNFRSF13B) were selected via the LASSO regression analysis, and results from the ROC curve analyses indicated the diagnostic efficacy of these 3 genes as biomarkers. These findings may aid in investigating the mechanisms of SCB immune infiltration in OA, stratifying OA progression, and identifying relevant therapeutic targets.
骨关节炎(OA)是一种退行性关节疾病,其在软骨下骨(SCB)中的免疫浸润机制尚不清楚。因此,本研究旨在区分 OA 早、晚期 SCB 中的免疫浸润变化,并确定相关的生物标志物。本研究利用 Gene Expression Omnibus 数据库中的 GSE515188 批量测序谱,进行了单样本基因集富集分析以及加权基因共表达网络分析,以鉴定两个阶段 SCB 中关键细胞和免疫相关基因(IRGs)。同时,在同一数据集识别差异表达基因(DEGs),并与 IRGs 进行交集以找到 IR-DEGs。使用 LASSO 回归进行蛋白质-蛋白质相互作用网络和富集分析以及进一步的基因筛选,发现了潜在的生物标志物,然后通过 ROC 曲线分析、单细胞 RNA 测序、qRT-PCR、western blot 和免疫荧光验证。使用 GSE196678 进行的 scRNA-seq 分析、qRT-PCR、western blot 和免疫荧光结果证实了它们在 OA 早期 SCB 样本中的表达水平上调。我们的综合分析揭示了淋巴细胞浸润是早期 OA SCB 的主要特征。共鉴定出 13 个 IR-DEGs,它们在 T 或 B 细胞激活途径中表现出显著富集。通过 LASSO 回归分析选择了其中的 3 个(CD247、POU2AF1 和 TNFRSF13B),ROC 曲线分析结果表明这 3 个基因作为生物标志物具有诊断效果。这些发现可能有助于研究 OA 中 SCB 免疫浸润的机制,对 OA 进展进行分层,并确定相关的治疗靶点。
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