A new review in Osteoarthritis and Cartilage synthesizes the latest genetic research to inform PROBE’s federated data and AI-driven approaches.

Osteoarthritis (OA) is a complex, multifactorial disease influenced by genetic, environmental, and biomechanical factors. To advance personalized treatment strategies, the PROBE consortium’s team, led by Helmholtz Munich, has conducted a comprehensive review of the latest genetic research in OA, now published in Osteoarthritis and Cartilage.

This review lays the foundation for PROBE’s work in:

  • Identifying genetic biomarkers linked to OA progression, enabling patient stratification for targeted therapies.
  • Integrating genetic data into PROBE’s federated database network, alongside imaging, clinical, and multi-omic datasets.
  • Informing novel endpoints for clinical trials, aligning with regulatory and HTA expectations (via WP2’s Regulatory & HTA Council).

The review highlighted how genetic variants can impact disease susceptibility, progression, and mechanical stress or inflammation responses. The important role that robust and diverse datasets have had in recent progress was emphasized and the need for multi-omic integration of genetic discoveries with single-cell, transcriptomic, and proteomic data to uncover mechanistic pathways was stressed as the best path towards clinical translation.

The work done for this review will:

  • Feed WP3’s federated data harmonization, ensuring that genetic data is interoperable and FAIR-compliant (findable, accessible, interoperable, and reusable).
  • Be integrated with WP4’s biomarker analyses, combining genetic markers with imaging and patient reported outcomes (PROs) to identify high-risk patient subgroups.
  • Aid in WP5’s trial design innovations, using genetic stratification to enhance trial efficiency and reduce sample sizes.

Read the full review in Osteoarthritis and Cartilage

Citation: Konstantinos Hatzikotoulas, Lorraine Southam, Eleftheria Zeggini, Genetics of osteoarthritis: Insights from GWAS to therapeutic opportunities, Osteoarthritis and Cartilage, 2026, ISSN 1063-4584, https://doi.org/10.1016/j.joca.2026.05.004.

Stay tuned for further reviews of the current literature on Osteoarthritis biomarkers!

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