Findings point to potential therapeutic pathways and provide widening basis for the development of a risk assessment test
Reykjavik, ICELAND, December 15, 2008 – Scientists from deCODE genetics (Nasdaq:DCGN) and colleagues from Australia and Denmark today report the discovery of common single-letter variations (SNPs) in the human genome linked to low bone mineral density (BMD), the clincial measurement used to diagnose osteoporosis. deCODE had previously identified five sites in the genome harboring SNPs with influence on BMD, and today’s study has added four more. They were identified through the correlation of BMD measurements with more than 300,000 SNPs across the genomes of 7,000 study participants in Iceland. The findings were then followed up and replicated in more than 5,000 participants from Denmark and Australia. The paper, “New sequence variants asociated with bone mineral density,” is published today in the online edition of Nature Genetics at www.nature.com/ng, and will appear in an upcoming print edition of the journal.
The new variants reported today are located on chromosomes 17q21, 14q32, 12q13 and 18q21. Like the variants previously discovered by deCODE, certain of those reported today are known to be involved in bone and skeletal development. The SNPs on chromosome 17 are adjacent to the SOST gene, which encodes sclerostin, a protein involved in the formation of bone. And the SNP on chromosome 18 lies close to the TNFRSF11A gene that has been implicated in Paget’s disease, a disorder causing localized bone deformities and weakness.
“This study expands our understanding of the genetic factors contibuting to low bone mineral density, propensity to fractures, and osteoporosis. And the genetics is clearly pointing us toward valuable novel drug targets. The next steps in this work are to analyze how these variants contribute to low BMD and related disorders, and to identify additional common as well as rare variants with a high impact on bone density. Once we do, we may well bring together genetic risk factors accounting for a sufficient proportion of risk of osteporosis to develop a clinically useful DNA-based risk assessment test. This could be a valuable tool, since peak bone density is achieved by early adulthood. Those at high risk of osteoporosis could therefore take concrete measures including appropriate diet and exercise regimes, to maximize their bone mass in youth and lower their risk of the disease later in life,” said Kari Stefansson, CEO of deCODE.
deCODE would like to thank the Icelandic participants, as well as the participants and scientists from the Danish Prospective Epidemiological risk Factor (PERF) study and the Australian Dubbo Osteoporosis Epidemiological Study (DOES), for making this study possible.
deCODE is a bio-pharmaceutical company developing drugs and DNA-based tests to improve the treatment, diagnosis and prevention of common diseases. Its lead therapeutic programs, which leverage the company’s expertise in chemistry and structural biology, include DG041, an antiplatelet compound being developed for the prevention of arterial thrombosis; DG051 and DG031, compounds targeting the leukotriene pathway for the prevention of heart attack; and DG071 and a platform for other PDE4 modulators with therapeutic applications in Alzheimer’s disease and other conditions. deCODE is a global leader in human genetics, and has identified key variations in the genome (SNPs) conferring increased risk of major public health challenges from cardiovascular disease to cancer. Based upon these discoveries deCODE has brought to market a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases. Through its CLIA-registered laboratory, deCODE is offers deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; deCODE ProstateCancer™ for prostate cancer; deCODE Glaucoma™ for a major type of glaucoma; and deCODE BreastCancer™, for the common forms of breast cancer. deCODE is delivering on the promise of the new genetics.SM Visit us on the web at www.decode.com; on our diagnostics site at www.decodediagnostics.com; for our pioneering personal genome analysis service, integrating the genetic variants included in these tests and those linked to another twenty common diseases, at www.decodeme.com; and on our blog at www.decodeyou.com.
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