Identification of Distinct Genetic Profiles of Palindromic Rheumatism Using Whole‐Exome Sequencing
Authors' conclusion
This study demonstrated the distinct genetic background between ACPA- and ACPA+ PR patients. Additionally, our findings strengthened that PR and RA were not genetically similar.
Study context
- Population
- Patients with palindromic rheumatism and healthy controls, 10 Chinese specialised rheumatology centres, September 2015 to January 2020
- Participants
- 185 / 135 / 50 / 272
- Comparison
- Patients with palindromic rheumatism vs healthy controls
- PRn = 185
- Anti-citrullinated protein antibody (ACPA-) PRn = 135
- ACPA+ PRn = 50
- Healthy controlsn = 272reference
- Outcome
- Loci and HLA alleles associated with PR at genome-wide significance (P < 5 × 10-8 )
Methodological detailswhole-exome sequencing case-control study, multicentre, prospective, whole-exome association analysis, HLA imputation, polygenic risk score
- Whole-exome sequencing case-control study
- Multicentre
- Prospective
- Whole-exome association analysis
- HLA imputation
- Polygenic risk score
Main finding
As reported in the abstract
Novel loci identified
8
HLA alleles identified
3
Observational data: associations, not effects.
Further findings
- ACPA status among PR patients: ACPA+ PR 27.02%
- ACPA status among PR patients: ACPA- PR 72.98%
Genetic correlation by polygenic risk score
- PR vs rheumatoid arthritis (RA): not similar (R2)
- R2 < 0.025
- ACPA+ PR vs ACPA- PR: moderate genetic correlation (R2)
- 0.38 < R2 < 0.8
Original publication
Identification of Distinct Genetic Profiles of Palindromic Rheumatism Using Whole‐Exome Sequencing. Arthritis Rheumatol. Published 20 September 2023. doi:10.
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