deCODE genetics and Roche Diagnostics announced that deCODE scientists have identified specific variations within a single gene that confer significant increased risk of osteoporosis. Osteoporosis is a major public health problem among people 50 years of age and older, particularly women, and is characterized by the progressive thinning and weakening of the bones. Under their alliance to develop and bring to market DNA-based diagnostics, the companies are analyzing these and other markers 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. deCODE receives milestone payments for these discoveries.

In its population genetics research on osteoporosis in Iceland, deCODE has identified seven SNPs (single-base variations in DNA) within a gene on chromosome 20 which confer a several-fold increased risk of osteoporosis. These variations contribute to decreased bone mass density in later life - the hallmark of osteoporosis - as well as to an increased risk of bone fractures, one serious and frequent result of the disease. The deCODE team identified the gene through a population- and genome-wide linkage study involving more than 1,000 patients and unaffected relatives in 139 families. The isolated gene was then sequenced and allelic variations associated with the disease were then identified. Additional association studies are underway at deCODE and Roche to validate the most informative marker sets for the disease worldwide. deCODE plans to publish details of the gene and the linkage study in a major scientific journal.

"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. "With Roche we are working to bring to market diagnostic tests and services based on these discoveries. At deCODE we are also working on drug targets identified through this work to develop new therapeutics that will target the same pathway pinpointed by these diagnostic markers."

"We are delighted to see our partnership with deCODE yielding results in such an important disease area" said Heino von Prondzynski, Head of Roche Diagnostics. "As part of the expansion of our molecular diagnostics business into genomics and women's health, we will focus our efforts on development of a diagnostic test and will be evaluating opportunities to license this marker to laboratory service providers. We believe this test will provide actionable health information that allows individuals to better understand their risk for osteoporosis and thereby obtain early treatment to help prevent the disease."