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Genetic regions that are major risk factors for osteoarthritis identified

09 July 2012

By Helen Brooks

Appeared in BioNews 664

Scientists have identified eight regions of the genetic code associated with an increased risk of developing osteoarthritis.

The most common form of arthritis, osteoarthritis is a disease of the joints where the cartilage breaks down. According to the American College of Rheumatology, 70 percent of people over the age of 70 have X-ray evidence of osteoarthritis and half of them will have symptoms.

Inherited factors account for more than half of a person's chances of being affected by the condition, and three susceptibility genes for osteoarthritis were already known.

Researchers at Newcastle University looked at the DNA of 7,400 patients with severe hip and knee osteoarthritis and compared it with that of 11,000 healthy people.

This first analysis allowed the scientists to focus their attention on particular 'culprit' sections of the DNA.

They repeated the comparison with the DNA of a further 7,500 osteoarthritis patients and more than 43,000 unaffected people from the Netherlands, Estonia, Iceland and the UK.

Their results confirmed the three previously reported genes linked to osteoarthritis and identified a further eight. Five of these were significantly associated with the disease. The strongest association was in the region of the GLN3 gene, which is involved in cell maintenance. Another three were located on genes important for cartilage, bone development and body weight.

'We know that osteoarthritis runs in families and that this is due to the genes that people pass on, rather than their shared environment', said Professor John Loughlin, who led the research.

He added that the study allowed researchers to say with a high degree of confidence which genetic regions were the major risk factors. '[It's] the first time that this has been possible for this common yet complex disease', he said. 'It's an important first step'.

Professor Alan Silman, medical director at Arthritis Research UK (the charity that funded the work), called the study 'a major breakthrough in our understanding of osteoarthritis, which we hope will help us to unlock the genetic basis of the disease'.

'Until we understand the cause of this complex disease', he added, 'we cannot hope to find a cure'.


16 December 2013 - by Daryl Ramai 
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18 March 2013 - by Reuben Harwood 
An experimental gene therapy that protects cartilage from wear and deterioration has been shown to slow the development of osteoarthritis in mice....

18 July 2011 - by Sarah Pritchard 
A team of international researchers have identified several new genetic variants that are involved in a type of incurable spine arthritis – ankylosing spondylitis (AS) – offering hope for novel treatments for those with the condition...
16 January 2010 - by Dr Jay Stone 
An international consortium composed of research groups in America, England and Australia has published its work in January's edition of the Nature Genetics journal, identifying six genetic regions associated with the autoimmune sidease ankylosing spondylitis (AS)....
15 October 2007 - by Stuart Scott 
A UK study, announced this week, aims to identify 20 genes involved in osteoarthritis (OA): the most common form of arthritis. Researchers are hopeful that their work will lead to a cheap diagnostic test and new targets for treatment for the disorder that currently has no cure...
09 June 2005 - by BioNews 
Gene therapy could be a safe and effective way of treating rheumatoid arthritis, say US researchers. In a small study, published early online in the Proceedings of the National Academy of Sciences, nine women received injections of genetically modified cells. The research, carried out at the University of Pittsburgh School...
15 January 2005 - by BioNews 
A gene crucial for making cartilage could be involved in osteoarthritis, say Japanese researchers. Scientists at the Institute of Physical and Chemical Research (RIKEN) have found that a mutated version of a gene called ASPN is more common in people with osteoarthritis. The disease, which affects more than five per...

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