| 引用本文: | 李晨曦,石婕,魏巍,李慕秋,李家宇,李梦佳,龚忠诚.颞下颌关节PVNS和RA共病机制及[]潜在治疗靶点的初步研究[J].生物信息学,2025,23(1):71-80. |
| LI Chenxi,SHI Jie,WEI Wei,LI Muqiu,LI Jiayu,LI Mengjia,GONG Zhongcheng.A preliminary study concerning comorbidity mechanism and potential therapeutic targets in PVNS and RA of temporomandibular joint[J].Chinese Journal of Bioinformatics,2025,23(1):71-80. |
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| 颞下颌关节PVNS和RA共病机制及[]潜在治疗靶点的初步研究 |
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李晨曦1,2,3,石婕4,魏巍1,2,李慕秋1,2,李家宇1,李梦佳1,2,龚忠诚1,2
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(1. 新疆医科大学第一附属医院(附属口腔医院)口腔颌面肿瘤外科,乌鲁木齐 830054;2. 新疆维吾尔自治区口腔医学研究所,乌鲁木齐 830054;3.华中科技大学同济医学院附属协和医院 口腔医学中心,口腔颌面发育与再生湖北省重点实验室 ,武汉 430022;4. 新疆大学 软件学院,乌鲁木齐 830046)
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| 摘要: |
| 色素沉着绒毛结节性滑膜炎(Pigmented villonodular synovitis, PVNS)是一种可累及关节的腱鞘巨细胞瘤,类风湿性关节炎(Rheumatoid arthritis, RA)作为一种慢性自身免疫性疾病,二者都极少发生在颞下颌关节(Temporomandibular joint, TMJ),给临床医师诊治造成一定困难。本研究探讨了TMJ PVNS和TMJ RA之间共病基因的功能、免疫学差异及潜在治疗靶点。根据基因芯片(GSE3698)原始矩阵数据在探针水平分析基因表达谱。使用R语言编程分析并可视化结果。筛查2种疾病共同的差异表达基因(Differentially expressed genes, DEGs),分析其分子功能和生物学过程。基于STRING数据库,将DEGs导入Cytoscape软件构建蛋白质互作网络。使用机器学习算法来识别Hub基因,并预测Hub基因的诊断效率以及与免疫浸润细胞之间的相关性。共计发现76个DEGs,与加权基因共表达网络分析获得的与临床特征相关性最高的334个基因进行交叉,最终产生22个TMJ PVNS和TMJ RA的共同基因。通过机器学习确定了PLIN,PPAP2A和TYROBP为2种疾病共同的Hub基因,并使用集成受试者工作特征曲线和列线图显示了良好的诊断效能。单样本基因集富集分析显示出此3个Hub基因与28个免疫浸润细胞有实质性关联。本研究首次发现PLIN,PPAP2A和TYROBP与TMJ PVNS和TMJ RA的发生和发展有关。它们有望成为TMJ PVNS和TMJ RA诊断和治疗的新靶点和研究方向,从而为未来提高患者的诊断和治疗水平以及临床预后提供新的理论参考。 |
| 关键词: 颞下颌关节 色素沉着绒毛结节性滑膜炎 类风湿性关节炎 差异表达基因 富集分析 免疫浸润分析 生物标志物 |
| DOI：10.12113/202306023 |
| 分类号:Q343.1 |
| 文献标识码:A |
| 基金项目:国家自然科学基金(No.9,1),口腔颌面发育与再生湖北省重点实验室开放课题基金(No.2022kqhm008),新疆维吾尔自治区科研创新项目(No.XJ2023G174). |
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| A preliminary study concerning comorbidity mechanism and potential therapeutic targets in PVNS and RA of temporomandibular joint |
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LI Chenxi1,2,3, SHI Jie4, WEI Wei1,2, LI Muqiu1,2, LI Jiayu1, LI Mengjia1,2, GONG Zhongcheng1,2
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(1. Department of Oral and Maxillofacial Oncology & Surgery, School / Hospital of Stomatology, the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054, China; 2. Stomatological Research Institute of Xinjiang Uygur Autonomous Region,Urumqi 830054, China; 3. Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, School of Stomatology, Tongji Medical College, Union Hospital,Huazhong University of Science and Technology, Wuhan 430022,China; 4. College of Software Engineering, Xinjiang University,Urumqi 830046, China)
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| Abstract: |
| Pigmented villous nodular synovitis (PVNS) is a tenosynovial giant cell tumor that can involve joints; and rheumatoid arthritis (RA) is a chronic autoimmune disease. Both of them rarely occur in the temporomandibular joint (TMJ), which makes it challenging for clinicians to diagnose and cure. This study explores the co-morbidity genes between TMJ PVNS and TMJ RA, along with their functions, immunological differences, and potential therapeutic targets. The gene expression profile is analyzed at the probe level according to the raw matrix data of gene chip (GSE3698). R language programming is used to analyze and visualize the results. The common differentially expressed genes (DEGs) are screened between these two conditions. The molecular functions and biological processes of the common genes are analyzed. Based on the STRING database, DEGs are imported into Cytoscape software to establish a protein-protein interaction network. Machine learning algorithms are utilized to identify hub genes and predict the diagnostic efficiency of hub genes as well as their correlation among immune infiltrating cells accordingly. A total of 76 DEGs are found out, and they are intersected with the 334 genes acquired by weighted gene coexpression network analysis (WGCNA), to eventually produce 22 common DEGs between TMJ PVNS and TMJ RA. PLIN, PPAP2A, and TYROBPare identified as three common hub genes between TMJ PVNS and TMJ RA that demonstrated good diagnostic performance using summary receiver operating characteristic curve and nomogram. Single sample gene set enrichment analysis shows three common hub genes substantially associated with 28 immune infiltrating cells. This investigation concludes that PLIN, PPAP2A, and TYROBPare associated with the occurrence and development of TMJ PVNS and TMJ RA. They are expected to become new targets and research directions for the diagnosis and treatment, thus providing new opportunities and references for improving the diagnosis and treatment level and clinical prognosis of patients with TMJ PVNS and TMJ RA in the future. |
| Key words: Temporomandibular joint Pigmented villous nodular synovitis Rheumatoid arthritis Differentially expressed genes Enrichment analysis Immune infiltration analysis Biomarkers |
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