2 September 2021

Scientists identify new genetic risk factors for osteoarthritis

Scientists have identified new genetic risk factors for osteoarthritis, which could now be treated with licensed drugs repurposed to target the debilitating condition.

A person holding their knee in pain
  • Scientists have pinpointed the genetic risk factors associated with osteoarthritis
  • Many of the genes highlighted are already targeted by licensed drugs, meaning they could be repurposed to treat osteoarthritis 
  • The research is the largest study of osteoarthritis to date and is a milestone in the development of a curative treatment for osteoarthritis 

Scientists have identified new genetic risk factors for osteoarthritis, which could now be treated with licensed drugs repurposed to target the debilitating condition.    

In the largest study of osteoarthritis to date, an international team of researchers from the Genetics of Osteoarthritis consortium discovered new genetic risk factors for the disease and have identified high-value drug targets.

The findings of the research, led by the Institute of Translational Genomics at Helmholtz Zentrum München in collaboration with the University of Sheffield, are a milestone in the development of the first ever curative treatment for osteoarthritis.

Co-author of the study Professor Mark Wilkinson, from the University of Sheffield's Healthy Lifespan Institute and Department of Oncology and Metabolism, said: “Osteoarthritis is a disease of the joints and affects over 300 million individuals worldwide. It causes a gradually increasing degeneration of the cartilage on the joint surface, resulting in chronic pain and stiffness. 

“Until now, there has been no curative treatment available for osteoarthritis. Our research has pinpointed genes for osteoarthritis which are already the targets of approved drugs, meaning we can reposition these drugs as potential treatments for osteoarthritis.” 

This study provides a stepping stone for translating genetic discoveries into osteoarthritis drug development, ultimately helping to improve the lives of patients suffering from osteoarthritis. 

“This is a major step forward in understanding this debilitating disease and could not have been achieved without this international team effort,” said Eleftheria Zeggini, Director of the Institute of Translational Genomics at Helmholtz Zentrum München.

The researchers also found previously unknown differences in disease risk for weight-bearing and non-weight-bearing joints, the first ever female-specific risk factors for developing disease, and the first risk factors for early-onset disease. 

For the first time, they found genetic links between osteoarthritis and its main symptom, pain. 

Cindy Boer, of Erasmus MC Netherlands and co-first author of the article, said: “Because we have investigated osteoarthritis in multiple joints, we have also identified specific genetic changes that underpin the risk for all forms of osteoarthritis. Some of these genes may prove to be validated as therapeutic targets for osteoarthritis, regardless of the joint affected.”

This work provides a robust springboard for the necessary follow-up functional and clinical research to see how these drugs will affect patient outcomes.


Additional information

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations - full paper

This study is the first output of the Genetics of Osteoarthritis consortium, a global collaboration with a focus on progressing our understanding of the genetic underpinning of osteoarthritis and related traits. The consortium aims to bring together all globally available genetic studies of osteoarthritis in order to make new discoveries possible. It is led by Helmholtz Zentrum München. 

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