Evaluating the causal effect of circulating proteome on the risk of Juvenile idiopathic arthritis: an omics pipeline study
Authors' conclusion
ERAP2 was identified as a candidate associated with JIA, especially sJIA, through integrative omics analysis, indicating its potential role in protein-mediated disease mechanisms and therapeutic targeting.
Study context
- Population
- Independent cohort at the Children's Hospital of Chongqing Medical University (validation); Juvenile Idiopathic Arthritis (JIA) risk loci from genome-wide association studies (GWAS)
- Outcome
- Plasma proteins with putatively causal effects on JIA
Methodological detailsintegrative omics pipeline, Summary-data-based Mendelian randomization, Whole Genome Sequencing (WGS), single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq validation in an independent cohort, Phe-WAS and literature review
- Integrative omics pipeline
- Summary-data-based Mendelian randomization
- WGS, scRNA-seq and bulk RNA-seq validation in an independent cohort
- Phe-WAS and literature review
Main finding
As reported in the abstract
WGS: two potentially pathogenic ERAP2 mutations in sJIA patients
2
Bulk RNA-seq ROC: AUC for discriminating sJIA from healthy controls
0.86
95% CI 0.71–1.00
Original publication
Evaluating the causal effect of circulating proteome on the risk of Juvenile idiopathic arthritis: an omics pipeline study. Pediatr Rheumatol Online J. Published 2 September 2025. doi:10.
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