Heterogeneity in the association of genetic risk for RA and resultant RA phenotypes
Main finding · Disease activity (CDAI) at enrolmentResult — go to the resultCDAI β 6.10 95% CI 1.23–10.97Authors' conclusion
Genetic variation renders heterogeneous associations with disease activity and phenotype in RA.
Study context
- Population
- Participants of the Veterans Affairs RA registry (VARA), a prospective cohort of RA
- Participants
- 2,557 VARA participants
- Exposure
- PTPN22 R620W genotype, HLA-DRB1 SE and non-HLA polygenic score (PGS) vs RA disease activity and characteristics
- Two R620W allelesn = 50
- Outcome
- RA disease activity scores and disease characteristics
Methodological detailsgenetic association study, linear and logistic regression adjusted for sex, age and principal components of population structure
- Genetic association study
- Linear and logistic regression adjusted for sex, age and principal components of population structure
Main finding
Disease activity (CDAI) at enrolment
CDAI β
6.10
95% CI 1.23–10.97
P = 0.014
As reported in the abstract
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| Seropositivity, per PGS | 1.41 (1.26–1.58) | P < 0.001 | |
| 0.512Odds ratio (log scale) |
- Seropositivity, per PGS — PGS >50th percentile vs reference population
- 1603 (62%)
Seropositivity, per PGS
- PTPN22 R620W, SE and PGS strongly associated with seropositivity
Original publication
Heterogeneity in the association of genetic risk for RA and resultant RA phenotypes. Rheumatology (Oxford). Published 18 January 2026. doi:10.
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