First genome-wide scan for osteoporosis (5/1/2008)

Research led by a group from King's has uncovered two genes to aid diagnosis and treatment of osteoporosis. The research published in the Lancet, scanned for variations in more than 20,000 human genes, uncovering the OPG and LRP5 genes which are crucial in bone density and fracture.

The group undertook a combined Anglo-Dutch study of more than 8500 people and looked at the genes of female twins, comparing the positive results in men and women from Rotterdam, as well as women from Essex.

The two genes that were positively associated with bone density in all samples were the OPG (osteoprotegerin) gene and the LRP5 gene, which both have a crucial role in bone biology and are the target of current treatments in development. Moreover the genes were also related to risk of fracture.

Dr Brent Richards, a member of the Twin Research Unit, and author of the study says: 'One important feature of the study is that over one in five people carry one of the risk variants of these genes which increase chances of fracture and osteoporosis by more than 30 per cent.'

Osteoporosis affects one in three women and one in six men and costs the UK over £1 billion pounds a year through the effects of fracture. One in two women and one in five men over the age of 50 in the UK will break a bone, mainly because of osteoporosis. Exactly why this happens is still not fully understood. Research continues to build up a picture of the factors that influence our bones.

Drug Development

New osteoporosis drugs are currently in development that will act via these gene mechanisms and it is possible that they will work best in those these risk genotypes. One of these drugs could be on the market within three years.

Fracture has been shown by twin studies to be 50 per cent heritable and its main risk factor is bone density which has also previously been shown to be 80 per cent heritable. Family history of hip fracture is a known risk factor - but this information may not be available in many people whose parents died early.

Professor Tim Spector, Genetic Epidemiologist and Director of the Twin Research Unit at King's, who led the study comments: 'This study shows for the first time, that osteoporosis is caused by many common gene variants of modest effect rather than just a few genes.

'These two genes are likely to be the most important and together can easily be tested and are as useful in risk assessment as many other tests used by clinicians, such as questions about smoking history or the use of steroids. They also show the way for future gene tests as we add more genes.'

Note: This story has been adapted from a news release issued by King's College London

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