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A deeper understanding of osteoarthritis genetic risk

Award Details

  • Principal Investigator
    Professor John Loughlin
  • Type of grant
    Project Grant
  • Amount Awarded
  • Institute
    Newcastle University
  • Location
  • Status
  • Start Date
  • Grant reference number
  • Condition

What are the aims of this research?

The arcOGEN study funded by Arthritis Research UK is the largest genetic study of osteoarthritis that has been carried out to date. The results revealed eight new genetic regions which are associated with disease risk. The aim of this study is to study one of these new genetic regions in more detail, in order to understand more about how genetic changes in this region lead to the development of osteoarthritis.

Why is this research important?

Osteoarthritis is known to have an inherited, genetic component. Genes that carry common changes in their DNA sequence can influence an individual’s risk of developing disease. In order to understand why certain genetic changes cause osteoarthritis, it is necessary to carry out detailed investigations of not only the sequence changes but also the genes themselves and the proteins which are made by the genes.

One of the most significant genetic risk regions identified by the arcOGEN study is a large region on chromosome 6. This section of DNA contains seven genes, six of which could plausibly have a role in osteoarthritis since they are active in the joint. Early investigations have suggested that one or two of these genes may not operate at the right level of activity, making the joints vulnerable to damage over time since they are not making the right amount of protein to ensure that the joints are repaired and maintained adequately. This study will investigate which of these six genes affect an individual’s risk of developing osteoarthritis and why this occurs, using tissue from patients with or without osteoarthritis as well as human cells.

How will the findings benefit patients?

Knowing more about the genetic changes that cause osteoarthritis will help to identify individuals who are at increased risk of developing this disease and will highlight potential targets for novel therapies that could slow down or halt disease progression. For example, if it is found that one or more of these genes are not as active as they should be, it may be possible to boost their activity in the joints to alleviate the symptoms of osteoarthritis or reduce the likelihood of the disease developing.


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