Genome-wide scan uncovers genes involved in osteoporosis risk
13 May 2008
Research published in the Lancet has identified two genetic variants of key biological proteins that increase the risk of osteoporosis and related fractures. It is hoped that the variant forms of the two genes, carried by over 20 per cent of the population, could be used alongside known environmental factors to help predict who is at risk of osteoporosis.
The team, including researchers from the Twin Research Unit at King’s College London and the Wellcome Trust Sanger Institute, studied the whole genome of over 8 500 Dutch and British people, including 2000 female twins. The aim of the genome-wide study was to identify common gene variants that were associated with bone mineral density, which is reduced in osteoporosis.
The results revealed two genes whose variant forms were associated with bone density: OPG (osteoprotegerin) and LRP5 (low density lipoprotein receptor-related protein 5). These genes are known to play important roles in bone biology, and osteoporosis treatments aimed at these genes are already under development. The researchers found that carrying both risk variants was found to increase the chance of fracture and osteoporosis by more than 30 per cent.
“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,” says Dr Tim Spector, Director of the Twin Research Unit. “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.”
Image: Osteoporotic bone from the vertebra; Professor Alan Boyde, Wellcome Images
References
Richards JB et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008;3;371(9623):1505-12.