Identification of a distinctive gene signature associated with disease activity in granulomatous myositis
Authors' conclusion
GM is transcriptomically characterized by a strong IFNγ signature and overexpression of proinflammatory cytokines, including IL1B, TNF and TGFB1. Additionally, it exhibits a unique transcriptomic profile, including CHIT1, which correlates with disease activity.
Study context
- Population
- Muscle biopsies from patients with granulomatous myositis (GM), other myopathies and healthy comparators
- Participants
- 722 muscle biopsies
- Comparison
- GM vs other myopathies and healthy comparators
- GMn = 38
- Outcome
- Specific transcriptomic profile of GM
Methodological detailsbulk RNA sequencing, spatial transcriptomics, immunohistochemistry
- Bulk RNA sequencing
- Spatial transcriptomics
- Immunohistochemistry
Main finding
As reported in the abstract
GM transcriptomic profile
Significantly upregulated genes in GM signature
1293
Significantly downregulated genes in GM signature
256
Support vector machine identification of GM, AUC
99.6%
99.0–99.9%
Support vector machine identification of GM, accuracy
98.6%
98.2–98.9%
Original publication
Identification of a distinctive gene signature associated with disease activity in granulomatous myositis. Rheumatology (Oxford). Published 22 October 2025. doi:10.
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