DNA Methylation Profiling Reveals Distinct Epigenetic Clusters and Suggests Epigenetic Patterns Associated With Sex and Disease Activity in Childhood‐Onset Lupus
Authors' conclusion
cSLE displays distinct DNA methylation patterns associated with disease activity, molecular subgroups, and sex, underscoring the potential for epigenetically informed diagnostics and therapies.
Study context
- Population
- Patients with childhood-onset systemic lupus erythematosus (SLE) and healthy controls
- Participants
- 64 / 47 / 38
- Comparison
- Childhood-onset SLE vs healthy controls
- cSLEn = 64
- Healthy controln = 47reference
- Validationn = 38
- Outcome
- DNA methylation changes in cSLE
Methodological detailsepigenome-wide DNA methylation profiling (Infinium MethylationEPIC v2.0), independent validation cohort, linear regression adjusting for age, sex, medication use and cell composition, K-means clustering, Gene Ontology enrichment
- Epigenome-wide DNA methylation profiling (Infinium MethylationEPIC v2.0)
- Independent validation cohort
- Linear regression adjusting for age, sex, medication use and cell composition
- K-means clustering
- Gene Ontology enrichment
Main finding
As reported in the abstract
Differential DNA methylation in cSLE
- K-means clustering identified three distinct methylation-based cSLE subgroups: cell adhesion and growth factor response (cluster 1), cell differentiation and fate (cluster 2), oxidative stress and Ras-associated protein-1 signaling (cluster 3)
- three
Further findings
Sex-based analysis
- Immune-related hypomethylation in male patients; sites identified in peripheral blood mononuclear cells (PBMCs) replicating in independent whole blood dataset
- almost 90%
Original publication
DNA Methylation Profiling Reveals Distinct Epigenetic Clusters and Suggests Epigenetic Patterns Associated With Sex and Disease Activity in Childhood‐Onset Lupus. Arthritis Rheumatol. Published 25 March 2026. doi:10.
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