deCODE discovers common genetic variations contributing to risk of
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
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
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 .
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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