Vasculitis & polymyalgia rheumatica
Genetic associations of eosinophilic granulomatosis with polyangiitis in the Japanese population: exploring similarities and differences with European populations
Authors' conclusion
TSLP was suggested to be associated with EGPA both in the European and Japanese populations regardless of the ANCA status. In HLA-DRB1, both shared and population-specific susceptibility alleles were observed.
Study context
- Population
- Japanese patients with eosinophilic granulomatosis with polyangiitis (EGPA)103 EGPA patients
- Comparison
- Japanese patients with EGPA vs Japanese reference panel controls
- Total EGPAn = 103
- MPO-ANCA-positive EGPAn = 48
- Anti-neutrophil cytoplasmic antibody (ANCA)-negative EGPAn = 45
- Controlsn = approximately 60,000reference
- Outcome
- Association of European EGPA-associated variants (LPP, TSLP, IRF1/IL5, HLA, CDK6, 10p14, 12q21) with EGPA in Japanese
Methodological detailscandidate-variant replication of European genome-wide association study (GWAS) loci, case-control
- Candidate-variant replication of European GWAS loci
- Case-control
Main finding
As reported in the abstract
Association of EUR EGPA loci in Japanese EGPA
- HLA-DRβ1 Val 78 (encoded by DRB1*07:01 and *09:01) associated with total and MPO-ANCA-positive EGPA with genome-wide significance
- p<5.0E-08
Observational data: associations, not effects.
Original publication
Genetic associations of eosinophilic granulomatosis with polyangiitis in the Japanese population: exploring similarities and differences with European populations. RMD Open. Published 9 July 2026. doi:10. 1136/ rmdopen-2025-006644
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