Pediatric rheumatology

Shared genetic architecture and therapeutic targets across paediatric immune-mediated diseases

Ann Rheum DisPublished Genome-wide association study

Authors' conclusion

Paediatric-onset IMIDs share core pathways with adult forms but exhibit distinct genetic architecture shaped by age-specific immune and neurodevelopmental biology.

Study context

Population
Paediatric-onset immune-mediated inflammatory diseases (IMIDs), incl. JIA and related rheumatic diseases, European ancestry24 paediatric IMIDs
Participants
18,086 vs 131,019
Comparison
Cases vs Controls
  • Casesn = 18,086
  • Controlsn = 131,019reference
Outcome
Shared and category-specific genetic architecture
Methodological detailssubset-based meta-analysis, European ancestry
  • Subset-based meta-analysis
  • European ancestry

Pooled result

As reported in the abstract

Single nucleotide polymorphism (SNP)-based heritability, allergic IMIDs
28.9%
SNP-based heritability, autoimmune IMIDs
61.9%
Genome-wide significant loci outside the Major Histocompatibility Complex (MHC) region
39
Previously unreported loci
15
Loci shared between categories
19

Further pooled results

Comparison with adult IMIDs

Broad polygenic architecture shared with adult IMIDs; top-ranked genes converged strongly with adult rheumatic diseases

Drug-target prioritisation (Priority Index)

High-scoring genes
178
Approved or investigational IMID drug targets among them
43

Enriched pathways

NF-κB signalling, T helper 17 related pathways, JAK-STAT signalling, PD-1/PD-L1, CTLA-4 regulation, osteoclast differentiation

Original publication

Shared genetic architecture and therapeutic targets across paediatric immune-mediated diseases. Ann Rheum Dis. Published 10 August 2026. doi:10.1016/j.ard.2026.07.007

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