Hatzikotoulas 2025: OA GWAS Mixed Ancestry

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Publication

Translational genomics of osteoarthritis in 1,962,069 individuals.
Hatzikotoulas K, Southam L, Stefansdottir L, Boer CG, McDonald MLN, et al.
Nature. 2025 May;641(8065):1217–1224. doi: 10.1038/s41586-025-08771-z.
PMID: 40205036

Phenotypes

  • Osteoarthritis
  • Finger osteoarthritis
  • Hand Osteoarthritis
  • Osteoarthritis (hip)
  • Osteoarthritis of the hip or knee
  • Knee osteoarthritis
  • Spine osteoarthritis
  • Osteoarthritis (with total hip replacement)
  • Thumb osteoarthritis
  • Osteoarthritis of the hip or knee (with total joint replacement)
  • Osteoarthritis (with total knee replacement)

Experiment summary

This study reports the largest osteoarthritis GWAS meta-analysis to date (up to 489,975 cases and 1,472,094 controls of mixed ancestry), identifying 962 independent associations (513 novel), integrating multi-omics to prioritize ~700 effector genes, and highlighting drug repurposing opportunities.

Dataset ID
Hatzikotoulas2025_OA_Mixed