Sjögren's disease & overlap diseases
Sjögren’s patient subgroups identified through whole genome DNA methylation profiling
An erratum to this article was published (Arthritis Res Ther, 22 Aug 2026 ↗)
Authors' conclusion
These findings provide insight into the powerful link between epigenetics and clinical heterogeneity in SjD and contribute to classification of important patient subgroups.
Study context
- Population
- Sjögren’s disease (SjD) cases and symptomatic non-cases with labial salivary glands (LSGs) profiled on Illumina HumanMethylationEPIC BeadChip
- Participants
- 1,059 cases
- Comparison
- DNA methylation (DNAm) clusters of SjD cases and symptomatic non-cases from LSGs
- SjD casesn = 592
- Symptomatic non-casesn = 467reference
Methodological detailswhole genome DNA methylation profiling, hierarchical clustering of variational autoencoder (VAE) embeddings, cell-type proportion estimation
- Whole genome DNA methylation profiling
- Hierarchical clustering of VAE embeddings
- Cell-type proportion estimation
Main finding
As reported in the abstract
- Participants clustered into subgroups with differential SjD features and proportions of predicted cell-types
- Differential methylation in each cell-type between SjD cases in distinct clusters; largest number of differences in epithelial and B-cells
- In B-cells, methylation within NR2F2 and NDRG2 distinguished subgroups with different clinical manifestations
- Additional candidates in epithelial and B-cells include genes previously implicated in SLE
Original publication
Sjögren’s patient subgroups identified through whole genome DNA methylation profiling. Arthritis Res Ther. Published 4 February 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →