Sjögren's disease & overlap diseases

Transcriptome analysis unveils Th1 cell cycle signature as a distinctive feature of mixed connective tissue disease

Arthritis Res TherPublished Cross-sectional study

Authors' conclusion

Transcriptome analysis of peripheral blood immune cells revealed that MCTD Th1 cells share many transcriptional features with those in SLE, yet display distinctive cell cycle signature.

Study context

Population
Peripheral blood immune cells from patients with mixed connective tissue disease (MCTD), SLE, systemic sclerosis (SSc), IIM and healthy controls (HC)27 immune cell subsets
Participants
283 participants
Exposure
MCTD vs SLE, SSc, IIM and HC
  • MCTDn = 19
  • SLEn = 58
  • SScn = 63
  • IIMn = 64
  • HCn = 79reference
Outcome
Gene expression profiles of peripheral blood immune cells in MCTD vs related diseases, and association with clinical parameters
Methodological detailstranscriptome analysis, 27 immune cell subsets, differential gene expression and enrichment analyses, gene modular and machine learning analyses
  • Transcriptome analysis
  • 27 immune cell subsets
  • Differential gene expression and enrichment analyses
  • Gene modular and machine learning analyses

Main finding

As reported in the abstract

Gene expression in Th1 cells
  • MCTD had more differentially expressed genes (DEGs) in Th1 cells than related diseases and HC
  • DEGs between MCTD and SLE limited; MCTD Th1 cells shared common DEGs with each disease
  • Upregulation of cell cycle pathways in MCTD Th1 cells
  • Signature upregulated in high disease activity and in anti-U1-RNP positive patients in related diseases; associated with severity of RP
  • Th1 cell cycle signature correlated with interferon signature in other immune cells

Observational data: associations, not effects.

Original publication

Transcriptome analysis unveils Th1 cell cycle signature as a distinctive feature of mixed connective tissue disease. Arthritis Res Ther. Published 4 December 2025. doi:10.1186/s13075-025-03707-4

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