Genome‐Wide Aggregated Trans Effects Analysis Identifies Genes Encoding Immune Checkpoints as Core Genes for Rheumatoid Arthritis
Authors' conclusion
These results highlight the key role of immune checkpoints in rheumatoid arthritis and identify possible therapeutic targets.
Study context
- Population
- UK Biobank participants of European ancestry
- Participants
- 5,400 vs 453,705
- Comparison
- RA cases vs non-cases
- Casesn = 5,400
- Non-casesn = 453,705reference
- Outcome
- Association of RA with GATE scores for expression of each gene (whole-blood transcript or circulating protein)
Methodological detailsgenome-wide aggregated trans effects (GATE) scores, Mendelian randomization
- Genome-wide aggregated trans effects (GATE) scores
- Mendelian randomization
Main finding
As reported in the abstract
Putative core genes for RA (association with GATE scores, outside the HLA region)
- Putative core genes for RA identified outside the HLA region
- 16
- Validated by reported association of RA with single nucleotide polymorphisms (SNPs) within 200 kb of the transcription site
- Five
- Validated by association of measured protein level with RA in UK Biobank
- eight
- Validated by experimental perturbation in mouse models of inflammatory arthritis
- 10
- Genes in pathways affecting immunity or inflammation
- Fourteen
Original publication
Genome‐Wide Aggregated Trans Effects Analysis Identifies Genes Encoding Immune Checkpoints as Core Genes for Rheumatoid Arthritis. Arthritis Rheumatol. Published 16 March 2025. doi:10.
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