Pediatric rheumatology

Identification of candidate genes and pathways associated with juvenile idiopathic arthritis by integrative transcriptome-wide association studies and mRNA expression profiles

Arthritis Res TherPublished Transcriptome-wide association study

Authors' conclusion

By integrating TWAS and mRNA expression profiles, genes, biological pathways, and environmental chemicals associated with JIA were identified.

Study context

Population
Published genome-wide association study (GWAS) data on juvenile idiopathic arthritis (JIA)
Outcome
Genes, pathways and environmental chemicals associated with JIA
Methodological detailsintegrative analysis with mRNA expression profiles, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, protein-protein interaction (PPI) network with Molecular Complex Detection (MCODE), chemical gene set enrichment analysis
  • Integrative analysis with mRNA expression profiles
  • GO and KEGG enrichment analyses
  • PPI network with MCODE
  • Chemical gene set enrichment analysis

Main finding

As reported in the abstract

Genes associated with JIA identified by transcriptome-wide association study (TWAS)
1481
Differentially expressed genes from mRNA expression profiles
154
Overlapping genes (TWAS and mRNA expression profiles)
8
Pathways from GO and KEGG enrichment of TWAS genes
163
Clusters from PPI network and MCODE
8
Environmental chemicals associated with JIA
287

Original publication

Identification of candidate genes and pathways associated with juvenile idiopathic arthritis by integrative transcriptome-wide association studies and mRNA expression profiles. Arthritis Res Ther. Published 8 February 2023. doi:10.1186/s13075-023-03003-z

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