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August 23, 2025Journal of Orthopaedics

Identification of key pathways and biomarkers in rheumatoid arthritis synovial tissue through comprehensive transcriptomic integration

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Authors

QCQifan ChenCZChusong ZhouHWHongyan Wu

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Overview

Transcriptomic analysis uncovers core pathways and nine biomarkers in rheumatoid arthritis synovial tissue, highlighting plasma cell infiltration and IGHG1 as key disease drivers.

Key Points

  • To identify key pathogenic pathways, immune infiltration profiles, and diagnostic biomarkers in rheumatoid arthritis synovial tissue by integrating public transcriptomic datasets.
  • Integrated microarray and RNA-seq datasets (GSE1919, GSE12021, GSE55235, GSE55457, GSE77298, and GSE89408) from the GEO database.
  • Performed differential gene expression analysis, GO/KEGG functional enrichment, gene set enrichment analysis (GSEA), and CIBERSORT immune cell infiltration profiling.
  • Applied an ensemble of 113 machine learning algorithms to discover and validate diagnostic synovial gene signatures.
  • Identified 9,204 differentially expressed genes in the GSE89408 training set enriched in cytokine-cytokine receptor interaction and chemokine signaling (NES >1, FDR <0.001).
  • Observed a significant expansion of plasma cells in rheumatoid arthritis synovium, whereas control synovium completely lacked plasma cell infiltration.
  • Established a 9-gene diagnostic model (AIM2, AKR1B10, CXCL10, CXCL13, IGLC1, IL2RG, LRRC15, SDC1, and IGHG1) demonstrating robust cross-dataset diagnostic performance.

Cite This Study

Chen et al. (2025) studied this question.

synapsesocial.com/papers/6a9dcbb79f7050eb61e72d83https://doi.org/10.1016/j.jor.2025.08.049
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