Systematic review and independent validation of genetic factors of radiographic outcome in rheumatoid arthritis identifies a genome-wide association with CARD9
Authors' conclusion
We provide a comprehensive list of validated genetic associations with RA outcome and demonstrate that non-HLA polymorphisms can associate with radiographic severity independently of disease susceptibility.
Study context
- Population
- Patients with rheumatoid arthritis (RA) in the Norfolk Arthritis Register with genetic and treatment data, followed prospectively for up to 10 years2,198 longitudinal radiographs
- Participants
- 1,407 patients
- Outcome
- Radiographic outcomes (presence of erosions; Larsen score), modelled longitudinally
- Follow-up
- Up to 10 years
Methodological detailsprospective cohort (Norfolk Arthritis Register), genome-wide genotyping, longitudinal modelling, fine mapping and functional annotation
- Prospective cohort (Norfolk Arthritis Register)
- Genome-wide genotyping
- Longitudinal modelling
- Fine mapping and functional annotation
Pooled result
As reported in the abstract
Non-HLA genetic associations with radiographic outcome
Publications identified by systematic review
102
Independent associations with radiographic outcome reported
139
Independent polymorphisms replicated in Norfolk Arthritis Register
15
Original publication
Systematic review and independent validation of genetic factors of radiographic outcome in rheumatoid arthritis identifies a genome-wide association with CARD9. Ann Rheum Dis. Published 8 May 2025. doi:10.
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