Analysis of epigenetic biomarkers for diagnosis and assessment of severity in rheumatoid arthritis: a cross-sectional study
Authors' conclusion
Our results indicate that the level of DNA methylation in validated DMPs is associated with RA.
Study context
- Population
- Rheumatoid arthritis (RA) patients and healthy controls from a prospective inception cohortdiscovery cohort
- Participants
- 16 / 16 / 32
- Exposure
- RA vs healthy controls
- Severe RAn = 16
- Nonsevere RAn = 16
- Healthy controlsn = 32reference
- Outcome
- DNA methylation patterns (diagnostic and prognostic epigenetic biomarkers) in RA vs controls
Methodological detailsdiscovery cohort, validation by pyrosequencing, independent cohort confirmation, Whole genome methylation analysis by Infinium Methylation EPIC BeadChip; validation by pyrosequencing (PyroMark Q48)
- Discovery cohort
- Validation by pyrosequencing
- Independent cohort confirmation
- Whole genome methylation analysis by Infinium Methylation EPIC BeadChip; validation by pyrosequencing (PyroMark Q48)
Main finding
As reported in the abstract
DNA methylation
- At whole genome level, an epigenetic signature was associated with both RA and severity of RA
- Pyrosequencing confirmed methylation at CpG sites in TBC1D22A, PRHOXNB, ALLC and PRG2 associated with RA or severity of RA
Observational data: associations, not effects.
Further findings
TBC1D22A hypermethylation and RA in an independent cohort
- Novel association between TBC1D22A hypermethylation and RA confirmed
Original publication
Analysis of epigenetic biomarkers for diagnosis and assessment of severity in rheumatoid arthritis: a cross-sectional study. Arthritis Res Ther. Published 8 August 2025. doi:10.
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