Over 900 genetic links to osteoarthritis, including 500 previously unreported, have been uncovered in breakthrough research involving Sheffield Teaching Hospitals NHS Foundation Trust.
The landmark study, published in the Nature journal, involved an international collaboration to conduct the largest-ever genome-wide association study on osteoarthritis, using genetic information from nearly two million people.
By comparing the genetic codes of almost half a million individuals with osteoarthritis to 1.5 million without the condition, the team identified 962 genetic variations more commonly found in those with osteoarthritis, 513 of which were newly discovered. These findings pave the way for potential drug treatments and personalised therapies for people living with this degenerative condition.
Osteoarthritis is the leading cause of disability and chronic pain worldwide, affecting an estimated 595 million people globally, with projections suggesting this number will rise to 1 billion by 2050. Despite its impact, no disease-modifying treatments are currently available. By integrating diverse biomedical datasets, researchers identified 700 genetic disease-associated variants implicated in osteoarthritis development and discovered eight biological processes involved in regulating the body's internal systems and cell function, including the circadian clock and development signalling pathways.
Professor Mark Wilkinson, Professor of Orthopaedics at Sheffield Teaching Hospitals NHS FT, commented:
“These are hugely important findings which open up exciting new avenues in our search to find new drug treatments for the millions of people living with osteoarthritis. As well as identifying potential drug targets and opportunities for us to repurpose existing treatments that already target these genes in other conditions, this research has also significantly advanced our understanding of the underlying biological mechanisms associated with the disease. This holds enormous potential, in terms of developing more effective and personalised therapies and transforming future care.”
Notably, 10% of these genes encode proteins already targeted by drugs approved for other conditions, potentially accelerating treatment development. The study included genetic data from over a thousand Sheffield volunteers and was led by Helmholtz Munich, Germany's largest scientific research organisation.
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