Navigation Links
A Mutation Discovered in Iceland that Increases Risks of Osteoporosis and Certain Cancers
Date:5/5/2013

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 Stefánsson, 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.

About deCODE

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.

Media Contact:
Jon Gustafsson
jon@decode.com
+354-664-1905


'/>"/>
SOURCE deCODE genetics
Copyright©2012 PR Newswire.
All rights reserved

Related biology technology :

1. TrovaGene, Inc. Obtains Exclusive License to Novel Mutations Associated with Prognosis and Chemotherapy Response in Leukemia
2. Autism mutations, scattered across many genes, merge into common network of interactions
3. Japan Bioinformatics Announces Study on Leading Mapping Tools for DNA Mutation Discovery
4. Whole Genome Sequencing of Triple Negative Breast Cancer Reveals Previously Unreported Mutations
5. Mutations in VCP gene implicated in a number of neurodegenerative diseases
6. Dual-acting class of antimalarial compounds discovered with potential to prevent and treat malaria
7. Novel method to make nanomaterials discovered
8. Australian Discovered Biomarkers Map Path to New Blood Test for Bowel Cancer
9. Discovered Evolution of Genomic Sequences -- from Ocean Archaea to Brain Cancer -- Leads to New Synthetic Replikin Vaccines for Infectious Diseases and Cancer
10. Millions of DNA switches that power human genomes operating system are discovered
11. New Way to Kill Bed Bugs Discovered; Bed Bug Bully Says Use of Bed Bug Spray Remains the Better Technique to Kill the Pests
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... ON , June 27, 2016 /PRNewswire/ - BIOREM Inc. ... has been advised by its major shareholders, Clean Technology ... United States based venture capital ... shares of Biorem (on a fully diluted, as converted ... the disposition of their entire equity holdings in Biorem ...
(Date:6/27/2016)... ... June 27, 2016 , ... Newly created 4Sight Medical ... to the healthcare market. The company's primary focus is on new product introductions, ... strategies that are necessary to help companies efficiently bring their products to market. ...
(Date:6/24/2016)... 2016  Regular discussions on a range of subjects including ... two entities said Poloz. Speaking at a lecture ... , he pointed to the country,s inflation target, which is ... "In certain areas there ... common economic goals, why not sit down and address strategy ...
(Date:6/23/2016)... ... June 23, 2016 , ... Mosio, a ... eBook, “Clinical Trials Patient Recruitment and Retention Tips.” Partnering with experienced clinical research ... by providing practical tips, tools, and strategies for clinical researchers. , “The landscape ...
Breaking Biology Technology:
(Date:4/26/2016)... DUBLIN , April 27, 2016 ... of the  "Global Multi-modal Biometrics Market 2016-2020"  report ... ) , The analysts forecast ... a CAGR of 15.49% during the period 2016-2020.  ... a number of sectors such as the healthcare, ...
(Date:4/14/2016)... TEL AVIV, Israel , April 14, 2016 /PRNewswire/ ... in Behavioral Authentication and Malware Detection, today announced the ... has already assumed the new role. Goldwerger,s ... for BioCatch, on the heels of the deployment of ... In addition, BioCatch,s behavioral biometric technology, which discerns unique ...
(Date:3/29/2016)... , March 29, 2016 ... "Company") LegacyXChange "LEGX" and SelectaDNA/CSI Protect are pleased to ... ink used in a variety of writing instruments, ensuring ... of originally created collectibles from athletes on LegacyXChange will ... analysis of the DNA. Bill Bollander ...
Breaking Biology News(10 mins):