deCODE discovers common genetic variations contributing to risk of osteoporosis

22 December 2008

Scientists from deCODE genetics (Nasdaq:DCGN) and colleagues from Australia and Denmark have reported the discovery of common single-letter variations (SNPs) in the human genome linked to low bone mineral density (BMD), the clinical 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 associated with bone mineral density," is published in the online edition of Nature Genetics [1].

The new variants reported 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 contributing 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 osteoporosis 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.

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Your browser does not support inline frames or is currently configured not to display inline frames.	Your browser does not support inline frames or is currently configured not to display inline frames. deCODE discovers common genetic variations contributing to risk of osteoporosis 22 December 2008 Scientists from deCODE genetics (Nasdaq:DCGN) and colleagues from Australia and Denmark have reported the discovery of common single-letter variations (SNPs) in the human genome linked to low bone mineral density (BMD), the clinical 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 associated with bone mineral density," is published in the online edition of Nature Genetics [1]. The new variants reported 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 contributing 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 osteoporosis 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. Bookmark this page Your browser does not support inline frames or is currently configured not to display inline frames. To top	Your browser does not support inline frames or is currently configured not to display inline frames.