生物信息学2025，Vol.23Issue(1)：71-80,10.DOI:10.12113/202306023
颞下颌关节PVNS和RA共病机制及潜在治疗靶点的初步研究
A preliminary study concerning comorbidity mechanism and potential therapeutic targets in PVNS and RA of temporomandibular joint
摘要
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 TYROBP are 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 TYROBP are 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.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Key words
Temporomandibular joint/Pigmented villous nodular synovitis/Rheumatoid arthritis/Differentially expressed genes/Enrichment analysis/Immune infiltration analysis/Biomarkers分类
生物学引用本文复制引用
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):71-80,10.基金项目
国家自然科学基金(No.82160189,82360481),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). （No.82160189,82360481）
