Lupus & antiphospholipid syndrome
Enhanced B cell and complement cascade gene signatures in patients with neuropsychiatric systemic lupus erythematosus
Authors' conclusion
The clinical heterogeneity of NPSLE appears to be associated with molecular diversity, with certain endotypes or syndromes exhibiting distinct gene signatures.
Study context
- Population
- Patients with SLE (with and without neuropsychiatric systemic lupus erythematosus (NPSLE)) and matched healthy controls308 SLE patients
- Participants
- 119 / 189 / 72
- Comparison
- NPSLE vs non-NPSLE SLE vs matched healthy controls
- NPSLEn = 119
- non-NPSLEn = 189
- Healthy controls (HCs)n = 72reference
- Outcome
- Molecular (whole-blood transcriptomic) signature of NPSLE and its endotypes
Methodological detailswhole-blood RNA sequencing, supervised pathway enrichment analysis, unsupervised weighted gene coexpression network analysis
- Whole-blood RNA sequencing
- Supervised pathway enrichment analysis
- Unsupervised weighted gene coexpression network analysis
Main finding
As reported in the abstract
Transcriptomic signatures
- NPSLE vs HCs: dysregulated adaptive immune responses; upregulated IL-1, IL-6, IL-17 and IL-12/IL-23 signalling pathways
- NPSLE vs non-NPSLE: robust upregulation of complement cascade, DNA damage response, adaptive immunity, and IL-1 and IL-6 signalling
- Active NPSLE: strong autophagy signature
- B cell and complement cascade signatures gradually upregulated across non-NPSLE, inactive NPSLE and active NPSLE
- Diffuse syndromes correlated positively with the oxidative phosphorylation module
- aPL-positive NPSLE not associated with specific signatures by unsupervised analysis
- Endotype signatures: cognitive dysfunction – IL-6 signalling and leukocyte migration; seizures – DNA damage response; psychosis – inflammation; optic neuritis – type-I interferon
Original publication
Enhanced B cell and complement cascade gene signatures in patients with neuropsychiatric systemic lupus erythematosus. Ann Rheum Dis. Published 9 May 2025. doi:10.
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