“The first large scale genome-wide study of osteoarthritis of the knee”

Osteoarthritis is the most common form of arthritis in the elderly and is the third most common condition causing work disability. Scientists believe that it results from a combination of genetic abnormalities and joint injuries. Osteoarthritis is particularly debilitating in the weight-bearing joints of the knees, and when it reaches a severe stage it can render walking any distance or climbing stairs very difficult.

Genome-wide association studies aim to identify genetic variations among people that can be tied to variations in disease susceptibility- and so find novel genes.

In the genome-wide association study to appear this week in the American Journal of Human Genetics scientists led by a team in the Twin Research Unit, King’s College London investigated 500,000 gene markers in over 1500 women with osteoarthritis of the knee and 2600 controls from the US, the UK and the Netherlands.

The genetic variant that was found to be involved in all study populations maps close to the gene encoding for the cyclooxygenase-2 enzyme. This enzyme is the target of several anti-inflammatory drugs already used to treat osteoarthritis and other conditions.

“By finding genes involved in disease risk or involved in progression we will better understand the molecular pathogenesis of OA and this may open areas for therapeutic intervention. In addition identifying sets of genetic variants associated with risk of disease or with progression of osteoarthritis it will be possible to detect individuals at high risk and to better monitor disease progression,” stated the lead author, Dr Ana Valdes.

Professor Tim Spector, leader of the resesarch group said: “This important study is the first publication to come out of a multi-centre 12 million euro consortium funded by the European Union, called TREAT-OA coordinated by our group in King’s College London. The discovery of these variants highlights the importance of inflammatory pathways in the development of osteoarthritis and brings us closer to understanding the genetic basis of this common debilitating condition. This gene is hopefully the first of many we will uncover in the next few years,” he added.

The ‘TREAT-OA’ Study is funded by the Framework 7 program of the EU. The Twin Unit also receives funding from the Wellcome Trust and the Arthritis and Rheumatism Campaign.

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