Xu Sheng, Ye Jia, Cai Xiaochong
Department of Orthopaedics, Jinhua Wenrong Hospital, Jinhua 321000, Zhejiang, China.
Korean J Physiol Pharmacol. 2025 May 1;29(3):359-372. doi: 10.4196/kjpp.24.322.
Osteoarthritis (OA) is one of the most prevalent joint disorders, with aging considered a primary, irreversible factor contributing to its progression. Telomere-related cellular senescence may be a crucial factor influencing the OA process, yet biomarkers for OA based on telomere-related genes have not been clearly identified. The datasets GSE51588, GSE12021, and GSE55457 were retrieved from the Gene Expression Omnibus database. Initially, R software was utilized to identify differentially expressed genes between OA and normal samples. Subsequently, differentially expressed telomere-related genes (DETMRGs) were obtained, and their functional enrichment was analyzed. Feature genes for OA diagnosis were selected from DETMRGs using a combination of least absolute shrinkage and selection operator, support vector machine-recursive feature elimination, and Random Forest algorithms. The diagnostic value of these feature genes was then validated through receiver operating characteristic (ROC) curves and decision curve analysis. Additionally, CIBERSORT and xCell were employed to assess the infiltration of immune cells in OA tissues. Finally, potential drugs targeting candidate genes were predicted. Three telomere-related genes, , , and , have been identified as biomarkers for OA diagnosis and were confirmed through ROC diagnostic tests. The immune infiltration of mast cells, neutrophils, common lymphoid precursors, and eosinophils associated with , , and was reduced. Recognizing telomere-related genes , , and as potential diagnostic biomarkers for OA is significant, as it offers valuable insights into the role of telomere-related genes in OA. This discovery also provides valuable information for the diagnosis and treatment of OA.
骨关节炎(OA)是最常见的关节疾病之一,衰老被认为是导致其进展的主要、不可逆因素。端粒相关的细胞衰老可能是影响骨关节炎进程的关键因素,但基于端粒相关基因的骨关节炎生物标志物尚未明确确定。从基因表达综合数据库中检索数据集GSE51588、GSE12021和GSE55457。最初,利用R软件识别骨关节炎样本和正常样本之间的差异表达基因。随后,获得差异表达的端粒相关基因(DETMRGs),并对其功能富集进行分析。使用最小绝对收缩和选择算子、支持向量机递归特征消除和随机森林算法相结合的方法,从DETMRGs中选择用于骨关节炎诊断的特征基因。然后通过受试者工作特征(ROC)曲线和决策曲线分析验证这些特征基因的诊断价值。此外,采用CIBERSORT和xCell评估骨关节炎组织中免疫细胞的浸润情况。最后,预测靶向候选基因的潜在药物。已确定三个端粒相关基因, 、 和 ,作为骨关节炎诊断的生物标志物,并通过ROC诊断测试得到证实。与 、 和 相关的肥大细胞、中性粒细胞、常见淋巴样前体和嗜酸性粒细胞的免疫浸润减少。将端粒相关基因 、 和 识别为骨关节炎的潜在诊断生物标志物具有重要意义,因为它为端粒相关基因在骨关节炎中的作用提供了有价值的见解。这一发现也为骨关节炎的诊断和治疗提供了有价值的信息。