Vasculitis & polymyalgia rheumatica
Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing
Authors' conclusion
We identified new shared risk loci with functional impact in vasculitis and pinpointed potential causal genes, some of which could represent promising targets for the treatment of vasculitis.
Study context
- Population
- Patients with any of the main forms of systemic vasculitis and healthy controls
- Participants
- 8,467 vs 29,795
- Comparison
- Patients with main forms of vasculitis vs healthy controls
- Vasculitisn = 8,467
- Healthy controlsn = 29,795reference
- Outcome
- New genetic risk loci shared across the main systemic vasculitides
Methodological detailsASSET meta-analysis, functional annotation, drug repositioning analysis (DrugBank)
- ASSET meta-analysis
- Functional annotation
- Drug repositioning analysis (DrugBank)
Pooled result
As reported in the abstract
Shared risk variants
Variants independently associated with two or more vasculitides
16
New shared risk loci among them
15
Novel genetic risk loci in vasculitis (near CTLA4 and CPLX1)
2
Further pooled results
Functional annotation
- Most polymorphisms appeared to affect vasculitis by regulating gene expression
- Prioritised potential causal genes: CTLA4, RNF145, IL12B, IL5, IRF1, IFNGR1, PTK2B, TRIM35, EGR2, ETS2
Drug repositioning
- Several drugs, including abatacept and ustekinumab, could potentially be repurposed
Original publication
Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing. Ann Rheum Dis. Published 16 February 2023. doi:10.
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