Scientists find gene signal for osteoporosis

DeCODE Genetics & Roche Diagnostics announce that they have identified specific variations within a single gene that increase the risk of Osteoporosis.

With the on-going development of DNA-based diagnostics, the companies are analysing these and other markers (an identifiable physical location on a chromosome whose inheritance can be monitored) to create a test that can identify individuals who are at a high risk of developing the disease. Such a test promises to enable effective prevention strategies for the disease itself and for complications such as bone fractures.

The DeCODE team identified the gene through a population study involving more than 1,000 patients and unaffected relatives in 139 families. The isolated gene was then sequenced and dominant variations associated with the disease were then identified. Additional studies are underway to validate the most informative marker sets for the disease worldwide.

Osteoporosis is a major public health problem among people 50 years and older, particularly women, and is characterised by the progressive thinning and weakening of the bones.

‘This is a concrete example of how our breakthroughs in genetics are going to contribute to better healthcare in the very near future. A test that integrates these discoveries will enable doctors to determine early on if their patients are particularly predisposed to Osteoporosis and then help them to adopt preventive measures that can significantly reduce their chance of ever developing the disease,’ said Dr. Kari Stefansson, CEO of deCODE.