Uncovering specific genetic-respiratory disease endotypes for rheumatoid arthritis risk
Authors' conclusion
Several genetic-respiratory disease interactions strongly drive RA onset.
Study context
- Population
- Mass General Brigham and Mayo Clinic Biobanks (mean age 64, 69% female)Mass General Brigham (MGB) 653 cases/2607 controls
- Comparison
- Interactions between genetic exposures (top 11 rheumatoid arthritis (RA) risk alleles, human leucocyte antigen (HLA) genetic risk score (GRS)) and respiratory diseases for RA risk
- Outcome
- RA risk from genetic-respiratory disease interactions
Methodological detailsmatched (1:4) on age, sex and health record history, discovery (MGB) and replication (Mayo Clinic (MC)) biobanks, logistic regression
- Matched (1:4) on age, sex and health record history
- Discovery (MGB) and replication (MC) biobanks
- Logistic regression
Main finding
As reported in the abstract
Genetic-respiratory disease interactions for RA risk
Odds ratio (95% CI)
NFKBIE and sinusitisMGB
5.49(1.56–19.4)
NFKBIE and sinusitisMC
5.26(2.00–13.86)
FAM167A and acute sinusitis (seronegative RA)MGB
6.00(2.09–17.24)
FAM167A and acute sinusitis (seronegative RA)MC
4.90(1.71–14.1)
RA HLA GRS and ILDMC
5.41(2.71–10.8)
- Six out of 11 non-HLA RA risk alleles interacted strongly with specific respiratory diseases for RA risk
- 6
Observational data: associations, not effects.
Further findings
Respiratory diseases and RA risk
| OR (95% CI) | ||
|---|---|---|
| Respiratory diseases | 1.34 (1.05–1.71) | |
| 0.512Odds ratio (log scale) |
HLA alleles predicting RA (DPB1*02:01, DRB1*16:01, DRB1*04:04)
- PPV
- 61%
Original publication
Uncovering specific genetic-respiratory disease endotypes for rheumatoid arthritis risk. Ann Rheum Dis. Published 2 January 2025. doi:10.
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