A Mutation Discovered in Iceland that Increases Risks of Osteoporosis and Certain Cancers
- Nature Published Study Illustrates Value of Big Data Research Methods
REYKJAVIK, Iceland, May 5, 2013 /PRNewswire/ –
deCODE genetics (an Amgen subsidiary) and Illumina, global leaders in analyzing and
understanding the human genome, together with scientists from the National Hospital of
Iceland and the University of Iceland reported today in the journal Nature the
identification of a rare nonsense mutation that confers high risk of osteoporosis and
osteoporosis related traits. The mutation was also found to dramatically increase the risk
of squamous cell carcinoma of the skin, biliary tract cancer, and to promote an imbalance
in blood electrolytes and late onset of menarche.
“Our findings strongly implicate LGR4 in the pathogenesis of osteoporosis as well as
various other human diseases, including certain cancers,” said study lead author Kari
Stefansson, M.D., Dr. Med., President of deCODE Genetics. “That this one mutation
increases the risk of many diseases is not surprising. The mutation impacts an important
signaling pathway known as Wnt, that contributes to the function of many cell types.”
In this study, the research team searched for gene mutations-or other variations in
the genome-that may have a direct effect on the risk of pathologically low-bone density
among a large set of sequence variants.
Using deCODE’s whole genome sequencing of 2,230 Icelanders, 34 million sequence
variants were identified and subsequently analyzed against 4,931 persons with low-bone
density disease and a large control population. From this approach, the research team
discovered the nonsense mutation in LGR4 and its large effect on osteoporosis and
osteoporosis related traits.
The effect of the LGR4 mutation on many other conditions was further investigated
taking advantage of a large number of human diseases and other traits that are available
at deCODE. Through this effort the mutation was also found to increase the risk of
squamous cell carcinoma of the skin and biliary tract cancer as well as to cause blood
electrolyte imbalance and late onset of menarche.
Headquartered in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing
and understanding the human genome. Using its unique expertise and population resources,
deCODE has discovered genetic risk factors for dozens of common diseases ranging from
cardiovascular disease to cancer. deCODE genetics is a subsidiary of Amgen. deCODE’s
corporate information can be found at http://www.decode.com.
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SOURCE deCODE genetics