New study aims to unravel the genetic causes of osteoarthritis

Arthritis Research UK–funded researchers at the Wellcome Trust Sanger Institute are aiming to uncover rare genetic factors that could affect people’s risk of developing osteoarthritis. 

The researchers, Dr Kalliope Panoutsopoulou and Prof Eleftheria Zeggini from the Wellcome Trust Sanger Institute in Hinxton, near Cambridge, will now aim to identify genetic factors that lead to the development of osteoarthritis and look at how they interact with environmental factors to increase a person’s risk of developing the disease. 

Osteoarthritis is caused by a complex interplay between genetic and environmental factors and is the most common musculoskeletal condition in older people. Around a third of people aged 45 years and over in the UK, almost nine million people, have sought treatment from their GP for osteoarthritis. 

This particular study will focus on rare genetic variants which may have escaped detection using previous research and technologies. The team will also investigate the genetic differences in the clinical characteristics and disease severity seen between patients. 

The £365,056 five-year study will build upon previous information made available from the arcOGEN project, the largest genetic study of osteoarthritis to date. Funded by Arthritis Research UK and involving researchers across the UK, including the Sanger Institute, the project identified nine genetic regions which are associated with disease. However there are also thought to be additional genetic variants yet to be identified. These may be less common in the population but may have a bigger contribution to people’s risk of osteoarthritis, making them attractive targets for future treatments. 

 Lead investigator, Dr Panoutsopoulou said: “Establishing the genetic factors that predispose people to developing this debilitating and painful disease is a crucial first step in the research path towards developing new treatments. 

“Investigating the genetic determinants that underlie differences in disease, for example severity, coupled with looking at environmental factors such as weight, will enable better therapies and more personalised treatment options.” 

Medical director at Arthritis Research UK, Professor Alan Silman, said: “Osteoarthritis can have a very negative impact on a person’s life causing loss of freedom of movement and pain. This important study could have far-reaching effects in terms of better understanding of the disease and identifying new treatment targets.” 

Osteoarthritis can develop in any joint in the body, although the knee and hip are often the most commonly affected joints. In severe cases, osteoarthritis can be a substantial barrier to mobility and independence, affecting wellbeing and quality of life, by causing people’s joints to become painful and stopping them moving freely.