Navigation Links
A Mutation Discovered in Iceland that Increases Risks of Osteoporosis and Certain Cancers

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

Media Contact:
Jon Gustafsson

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:
(Date:6/24/2016)... 2016 Epic Sciences unveiled a liquid ... to PARP inhibitors by targeting homologous recombination deficiency ... new test has already been incorporated into numerous ... types. Over 230 clinical trials are ... including PARP, ATM, ATR, DNA-PK and WEE-1. Drugs ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... to announce the launch of their brand, UP4™ Probiotics, into Target stores nationwide. ... years, is proud to add Target to its list of well-respected retailers. This ...
(Date:6/23/2016)... , June 23, 2016 Houston ... with the Cy-Fair Sports Association to serve as ... the agreement, Houston Methodist Willowbrook will provide sponsorship ... and connectivity with association coaches, volunteers, athletes and ... with the Cy-Fair Sports Association and to bring ...
(Date:6/23/2016)... , June 23, 2016   EpiBiome , ... secured $1 million in debt financing from Silicon Valley ... up automation and to advance its drug development efforts, ... new facility. "SVB has been an incredible ... the services a traditional bank would provide," said Dr. ...
Breaking Biology Technology:
(Date:4/14/2016)... AVIV, Israel , April 14, 2016 ... Behavioral Authentication and Malware Detection, today announced the appointment ... already assumed the new role. Goldwerger,s leadership ... BioCatch, on the heels of the deployment of its ... addition, BioCatch,s behavioral biometric technology, which discerns unique cognitive ...
(Date:3/31/2016)... -- Genomics firm Nabsys has completed a financial  restructuring under ... M.D., who returned to the company in October 2015. ... including Chief Technology Officer, John Oliver , Ph.D., ... Vice President of Software and Informatics, Michael Kaiser ... Bready served as CEO of Nabsys from 2005-2014 and ...
(Date:3/22/2016)... PUNE, India , March 22, 2016 ... new market research report "Electronic Sensors Market for ... Fingerprint, Proximity, & Others), Application (Communication & ... and Geography - Global Forecast to 2022", ... consumer industry is expected to reach USD ...
Breaking Biology News(10 mins):