King’s scientists reveal first large scale gene study of knee osteoarthritis

Scientists led by a team in the Twin Research Unit at King’s College London have investigated 500,000 gene markers in women with osteoarthritis (OA) of the knee. The team believe that an examination of these markers will lead to a better understanding of this debilitating condition.

The genome-wide association study is due to appear this week in the American Journal of Human Genetics.

Professor Tim Spector, leader of the research group, and Director of the Twin Research Unit comments: ‘This important paper is the first publication to come out of a multi-centre, Consortium funded by the European Union, called TREAT- OA, coordinated by our group at King’s.

‘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.’

Osteoarthritis is the most common form of arthritis in the elderly people 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 make 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 total over 1500 patients and 2600 controls from the US, the UK and the Netherlands were studied. 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.

Lead author Dr Ana Valdes, Senior Lecturer at the Twin Research Unit at King’s, adds: ‘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.’

Notes to editors

The TREAT-OA Consortium

The TREAT-OA Consortium is funded by a large collaborative European Union framework 7 programme. For more info please visit:

The Twin Research Unit

The Twin Research Unit also receives funding from the Wellcome Trust and the Arthritis Research Campaign. The Twin Unit has similar data on thousands of diseases and traits. For more details on the work of the Twin Research and Genetic Epidemiology Unit, please see the website:

The unit is always looking for twin volunteers (identical or non-identical) aged over 15 years to participate in research. Look at the website or phone 0207 188 5555 for details.

King’s College London

King’s College London is one of the top 25 universities in the world (Times Higher 2007) and the fourth oldest in England. A research-led university based in the heart of London, King’s has 19,300 students from more than 130 countries, and 5,000 employees. King’s has an outstanding reputation for providing world-class teaching and cutting-edge research. The College is in the top group of UK universities for research earnings and has an annual income of approximately £400 million. An investment of £500 million has been made in the redevelopment of its estate.

King’s has a particularly distinguished reputation in the humanities, law, social sciences, the health sciences, natural sciences and engineering, and has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA. It is the largest centre for the education of healthcare professionals in Europe and is home to five Medical Research Council Centres – more than any other university.

King’s College London and Guy’s and St Thomas’, King’s College Hospital and South London and Maudsley NHS Foundation Trusts are working together to create the UK’s largest Academic Health Science Centre (AHSC).

The AHSC will bring together the widest range of clinical and research expertise in the UK – strengths that will be used to drive improvements in care for patients, allowing them to benefit from breakthroughs in medical science and receive leading edge treatment at the earliest possible opportunity.

For further information visit

Further information
Kate Moore, Public Relations Officer (Health Schools)
Public Relations Department, King’s College London
Tel: 020 7848 4334

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