New genes potentially involved in the bone disease osteoporosis have been discovered by Southampton researchers, as part of an international study, providing potential targets for drug development.
Osteoporosis affects over three million people in the UK. Most common in older age, the condition gradually weakens a person’s bones, making them fragile and more likely to break.
Now large-scale genetic analysis of data from over 140,000 people has linked 153 variants to osteoporosis and shown a new gene, GPC6, may be involved in the development of the condition.
This discovery, published in Nature Genetics, improves our understanding of how osteoporosis develops and could be used to identify and treat those patients most at risk of fractures.
Finding the gene
One of the main ways to diagnose osteoporosis is to measure bone mineral density (BMD), as a low BMD can indicate the characteristic fragile bone structure associated with the disease.
To identify possible genes associated with low BMD, researchers from the University of Southampton, the University of Queensland in Australia and McGill University in Canada analysed genetic data from the UK Biobank for over 140,000 individuals, and found 153 potential targets.
They went on to investigate these genes in more detail, using a wide range of computational and laboratory methods, to determine if they played a role in the development of osteoporosis.
Preventing bone fractures
They showed for the first time that modifying the gene GPC6 affects BMD in mice, suggesting that people who inherit a faulty copy of this gene might be more likely to develop osteoporosis.
New drugs aimed at improving the function of GPC6 could therefore be developed to treat or prevent this common condition, helping keep bones strong and protect against fractures in later life.