Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics
Authors' conclusion
Our identification of four novel JIA-associated genes, CD247, RHOH, COLEC10 and IRF8, broadens the novel potential drug repositioning opportunities.
Study context
- Population
- JIA cases and controls
- Participants
- 4,550 vs 18,446
- Comparison
- JIA cases vs controls
- JIA casesn = 4,550
- Controlsn = 18,446reference
- Outcome
- Genome-wide significant non-HLA loci
Methodological detailsin silico and genome-editing target prioritisation, phenome-wide association studies, cell-type enrichment analyses (bulk and single-cell sequencing), druggable target analysis
- In silico and genome-editing target prioritisation
- Phenome-wide association studies
- Cell-type enrichment analyses (bulk and single-cell sequencing)
- Druggable target analysis
Pooled result
As reported in the abstract
Genome-wide significant non-HLA loci identified
14
Novel loci, each with pleiotropic associations with other autoimmune diseases or musculoskeletal traits
4
Further pooled results
Genetic correlation between JIA and BMD traits
- Genomic regions with strong genetic correlation
- 52
- Genome-wide association study (GWAS) loci for JIA among them
- 3
Cell-type enrichment
- Specific immune cell types crucial for affected organs in JIA
- 21
Druggable targets
- Known or candidate druggable target genes prioritised
- 24
Original publication
Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics. Rheumatology (Oxford). Published 5 February 2024. doi:10.
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