Integrated transcriptomic and epigenomic profiling reveals conserved molecular subtypes across systemic autoimmune diseases
Authors' conclusion
Integrative multiomics profiling defines 2 conserved molecular subtypes across RA, SLE, and pSS with distinct cellular and regulatory programmes.
Study context
- Population
- Treatment-naïve Chinese Han patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) or primary Sjögren's syndrome (pSS), predominantly female (83.2%)83.2% female
- Participants
- 262 patients
- Exposure
- Megakaryocyte-enriched vs B-cell-enriched molecular subtypes across RA, SLE and pSS
- RAn = 109
- SLEn = 69
- pSSn = 84
- Discoveryn = 119
- Validationn = 143
- Outcome
- Conserved molecular subtypes across SADs (bulk RNA sequencing) and their transcriptional and epigenetic underpinnings
Methodological detailsmultiomics profiling, discovery and validation cohorts, treatment-naïve patients
- Multiomics profiling
- Discovery and validation cohorts
- Treatment-naïve patients
Main finding
As reported in the abstract
Molecular subtypes
- 2 robust, reproducible molecular subtypes (megakaryocyte-enriched and B-cell-enriched), consistent across all 3 systemic autoimmune diseases (SADs) and both cohorts
- Megakaryocyte-enriched subtype associated with higher platelet counts, greater disease activity and broader organ involvement
- Distinct chromatin accessibility and regulatory architectures: megakaryocyte-associated genes (eg, ZFP36L1, RAD51B) linked to active superenhancers in megakaryocyte-enriched subtype; B-cell-associated genes (eg, MAF, PRDM1) in B-cell-enriched subtype
- Single-cell RNA sequencing (scRNA-seq) confirmed expansion of platelet-producing megakaryocytes and enhanced B-cell-activation signatures in their respective subtypes
Observational data: associations, not effects.
Original publication
Integrated transcriptomic and epigenomic profiling reveals conserved molecular subtypes across systemic autoimmune diseases. Ann Rheum Dis. Published 31 May 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →