Summary statistics are available for download from the GWAS Catalog.
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