

Osteoarthritis- the world’s leading cause of disability and chronic pain—currently affects more than 595 million people globally, with projections indicating a staggering 1 billion cases by 2050. Despite its widespread impact, no disease-modifying treatments are currently available. But new research offers a beacon of hope.
Largest Genome-Wide Osteoarthritis Study Identifies 900+ Genetic Associations
In a groundbreaking genetics study involving nearly 2 million individuals, an international team led by Helmholtz Munich has identified over 900 genetic associations with the disease—more than 500 of which were previously unknown. This marks the largest genome-wide association study (GWAS) ever conducted for osteoarthritis.
By integrating comprehensive biomedical datasets, the team pinpointed 700 genes strongly associated with osteoarthritis. Notably, 10% of these genes encode proteins already targeted by approved drugs, unlocking promising avenues for drug repurposing that could drastically shorten the path to new treatment options.
“With ten percent of our genetic targets already linked to approved drugs, we are now one step closer to accelerating the development of effective treatments for osteoarthritis,” said Prof. Eleftheria Zeggini, study leader and Director of the Institute of Translational Genomics at Helmholtz Munich.
Genetic Insights Enable Personalized Treatment Approaches
Beyond identifying new drug targets, the study also paves the way for personalized medicine. According to Dr. Konstantinos Hatzikotoulas, co-first author of the study, the findings will help refine patient selection in clinical trials, making future therapies more targeted and effective.
Additionally, the team identified eight critical biological pathways involved in osteoarthritis, including those related to the circadian clock and glial cell function. These findings highlight novel mechanisms that could be modulated to slow or halt disease progression.
“Our discovery suggests that targeted interventions regulating one or more of these eight processes could play another significant role in slowing or even halting disease progression,” Dr. Hatzikotoulas explained.
A New Era for Osteoarthritis Care
This pioneering osteoarthritis genetics study does more than expand our understanding of the disease—it sets the foundation for developing disease-modifying therapies. With a better grasp on the genetic underpinnings of osteoarthritis, scientists can now pursue faster, more personalized treatment options that have the potential to transform patient care worldwide.
“What we found not only advances our understanding of the disease but also lays the groundwork for developing more effective and personalized therapies,” said Prof. Zeggini.
For more information: Hatzikotoulas, K., et al. (2025). Translational genomics of osteoarthritis in 1,962,069 individuals. Nature. doi.org/10.1038/s41586-025-08771-z.
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