deCODE Discovers Common Genetic Variations Contributing to Low Bone Mineral Density and Risk of Osteoporosis
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Scientists from deCODE genetics and colleagues from Australia and Denmark 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 this 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 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 are located on chromosomes 17q21, 14q32, 12q13 and 18q21. Like the variants previously discovered by deCODE, certain of those 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.
