Osteoarthritis

The epigenomic landscape of primary tissues in osteoarthritis

Ann Rheum DisPublished Mechanistic study

Authors' conclusion

We found methylation sites with a potential mechanistically causal role in osteoarthritis and associated these with likely effector genes.

Study context

Population
Patients who underwent total knee replacement for OA; primary chondrocytes of low-grade and high-grade cartilage, synovium, infrapatellar fat pad and blood
Participants
314 patients
Outcome
Associations between genetic variants and methylation (mQTL), between methylation and gene expression (eQTM), colocalisation with OA GWAS signals and likely effector genes
Methodological detailsgenome-wide methylation quantitative trait locus (mQTL) and expression quantitative trait methylation (eQTM) mapping, integration with genome-wide association studies (GWAS), colocalisation
  • Genome-wide mQTL and eQTM mapping
  • Integration with GWAS
  • Colocalisation

Main finding

As reported in the abstract

Likely effector genes identified by tissue-specific integration of colocalisation and eQTM results
50

Original publication

The epigenomic landscape of primary tissues in osteoarthritis. Ann Rheum Dis. Published 26 February 2026. doi:10.1016/j.ard.2026.01.020

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