Immune Cell-Related Genes in Juvenile Idiopathic Arthritis Identified Using Transcriptomic and Single-Cell Sequencing...

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Juvenile idiopathic arthritis (JIA) is a prevalent chronic rheumatic disease in children.
• Understanding JIA's heterogeneity is crucial for effective treatment and research.
• Single-cell RNA sequencing (scRNA-seq) offers a powerful approach to investigate complex diseases like JIA.

Purpose of the Study:

• To identify key genes associated with immune cell differences in JIA using scRNA-seq.
• To explore the prognostic value of identified genes in JIA.
• To investigate the potential therapeutic implications of these genetic findings for JIA.

Main Methods:

• Differential immune cell analysis between normal control (NC) and JIA samples.
• Weighted gene co-expression network analysis (WGCNA) to identify correlated genes.
• Protein-protein interaction (PPI) network and machine learning algorithms to pinpoint key genes.
• Functional enrichment analysis and RT-qPCR validation.

Main Results:

• Five immune cell types showed significant differences between JIA and NC samples.
• 168 differentially expressed immune cell-related genes (DE-ICRGs) were identified.
• Four key genes (SOCS3, JUN, CLEC4C, NFKBIA) were identified, with SOCS3, JUN, and NFKBIA linked to TNF-α signaling via NF-κB.
• Gene expression patterns varied across different cell clusters (B cells, monocytes) in JIA samples, validated by RT-qPCR.

Conclusions:

• Identified four key genes (SOCS3, JUN, CLEC4C, NFKBIA) with significant prognostic value for JIA.
• These genes are implicated in critical inflammatory pathways relevant to JIA pathogenesis.
• The findings may guide future JIA treatment strategies and research directions.