Lupus & antiphospholipid syndrome
Disentangling the riddle of systemic lupus erythematosus with antiphospholipid syndrome: blood transcriptome analysis reveals a less-pronounced interferon (IFN)-signature and distinct molecular profiles in venous versus arterial events
Authors' conclusion
There is a hierarchical upregulation and-likely-dependence on IFN in SLE with the highest IFN signature observed in SLE-aPL-negative patients. Venous thrombotic events are associated with neutrophils and B cells while arterial events with DDR and impaired metabolism.
Study context
- Population
- Patients with SLE (aPL-positive, systemic lupus erythematosus with antiphospholipid syndrome (SLE-APS), aPL-negative) and matched healthy controls299 SLE + 72 matched healthy controls (HC)
- Participants
- 108 / 67 / 191 / 72
- Comparison
- SLE-APS vs SLE-aPL-negative vs HC
- SLE-aPL-positiven = 108
- SLE-APSn = 67
- SLE-aPL-negativen = 191
- HCn = 72reference
- Outcome
- Whole-blood transcriptome: IFN pathways and gene modules, SLE-APS vs HC and vs SLE-aPL-negative
Methodological detailswhole-blood RNA-sequencing, pathway enrichment analysis, unsupervised weighted gene coexpression network analysis, machine learning
- Whole-blood RNA-sequencing
- Pathway enrichment analysis
- Unsupervised weighted gene coexpression network analysis
- Machine learning
Main finding
As reported in the abstract
100-gene random forests model distinguishing SLE-APS from HC, cross-validated accuracy
75.6%
SLE-APS vs SLE-aPL-negative: differentially expressed genes (downregulated IFN-α and IFN-γ signatures; dysregulated complement cascade, B-cell activation, neutrophil degranulation)
227
Gene modules identified in SLE transcriptome (SLE-APS strongly linked to upregulated 'neutrophilic/myeloid' module)
21
Original publication
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