In osteoarthritis, the protective cartilage at the ends of the bones breaks down, causing pain, swelling and problems with joint movement. This can make everyday activities more difficult. Almost any joint can be affected by osteoarthritis, but most commonly the condition causes problems in the knees, hips and small joints of the hands. Osteoarthritis is a complex disease caused by an interplay of environmental and genetic risk factors. It is a chronic disease and cannot be cured. However, mild symptoms can be alleviated by regular exercise, weight loss for those who are overweight, or special aids, for example. New treatment or healing methods are therefore in demand. Previous genome-wide association studies (GWAS) have led to the identification of about 150 risk variants that are mediated by genes involved in various signaling pathways.

The international research team conducted the GWAS analysis on approximately 490,000 osteoarthritis patients and more than 1.4 million controls. They were able to identify over 900 genetic associations, including more than 500 previously unknown ones. By combining diverse biomedical data sets, the team was able to identify 700 genes that are highly likely to be involved in osteoarthritis. Remarkably, 10% of these genes encode proteins targeted by already approved drugs. This offers opportunities for repurposing existing medications and could accelerate the development of new therapies.

Original publication:
Hatzikotoulas, K., Southam, L., Stefansdottir, L. et al. Translational genomics of osteoarthritis in 1,962,069 individuals. Nature (2025). https://doi.org/10.1038/s41586-025-08771-z

Further information:
https://www.helmholtz-munich.de/