Navigation Links
deCODE Genetics, in Collaboration with Academic Colleagues and Illumina, Discovers Two Rare Variants that Affect the Risk of Gout and Serum Uric Acid Levels

REYKJAVIK, Iceland, October 9, 2011 /PRNewswire/ --

Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA today report the discovery of low frequency variants in the human genome that associate with risk of gout, a common inflammatory arthritis, and serum uric acid levels.  The study was done in collaboration with Illumina, Inc., and is published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the sequences of the entire genomes of 457 Icelanders, and identified 16 million single nucleotide polymorphisms (SNPs). Through a combination of SNP genotyping and computational techniques utilizing the extensive Icelandic genealogy, they were able to propagate those 16 million variants into over 40,000 Icelanders, including over 1,200 patients with gout and over 22,000 individuals for whom serum uric acid measurements were available.

The researchers observed a sequence variant in a previously unidentified gout susceptibility gene located on chromosome 19 that has a large effect on serum uric acid levels and gout. The sequence variant is a mis-sense mutation that causes an increase in the level of uric acid by 0.04 mmol/L and a three-fold increase in the risk of gout. Close to 4% of individuals in the overall Icelandic population carry this variant, and ~0.2% of the individuals assessed by academic collaborators in Norway, Denmark, The Netherlands and the United States.  

The variant encodes an amino acid change in ALDH16A1, a member of the aldehyde dehydrogenase (ALDH) superfamily, and could motivate further biological studies of this pathway.  Other members of the ALDH superfamily have been associated with other clinical phenotypes including alcohol-induced flushing.

Also, at a previously reported locus on chromosome 1, the researchers discovered another novel low frequency variant associating with serum uric acid level and gout. The variant decreases the risk of gout by 50%, and the level of uric acid by 0.05 mmol/L. Approximately 3% of the Icelandic population carry this variant and 1.5% of the European subjects.

For both loci the effect on risk of gout is significantly higher among men than women, but the effect on serum uric acid levels is the same in both sexes.

"This study underscores the importance of whole genome sequencing of well-phenotyped populations.  We are pleased that the clinical and genetic resource that deCODE has built enables us to make such discoveries," said Kari Stefansson, deCODE's CEO and senior author of the study.  

"We are committed to turning discoveries such as this, as well as our recent findings in ovarian cancer and sick sinus syndrome, and our future discoveries, into real benefit for patients," Dr. Stefansson continued.

Gout is a common inflammatory arthritis caused by urate crystal formation resulting from a high concentration of uric acid in the blood, which is in turn caused by an imbalance in the dietary intake of purines and in the synthesis an excretion of urate. The incidence of gout increases with age and is three times higher in men than in women.

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.

In order to most rapidly realize the value of genetics for human health, deCODE is currently partnering with life sciences companies to accelerate their target discovery, validation, and prioritization efforts, yielding improved patient stratification for clinical trials and essential companion diagnostics. In addition, through its CLIA- and CAP-certified laboratory, deCODE offers DNA-based tests for gauging risk and empowering prevention of common diseases.  deCODE also licenses its tests, intellectual property, and analytical tools to partner organizations. deCODE's corporate information can be found at with information about our genetic testing services at and

Gisli Arnason          

SOURCE deCODE genetics
Copyright©2010 PR Newswire.
All rights reserved

Related biology technology :

1. deCODE genetics to Webcast Presentation at Thomas Weisel Partners Healthcare Conference 2008
2. Researchers decode viral process that prepares cells for HIV infection
3. deCODE Receives Nasdaq Deficiency Notice Relating to Market Value
4. deCODE Discovery Sheds Light on Risk of the Most Common Form of Skin Cancer
5. deCODE genetics Announces Webcast of Conference Call to Discuss Third Quarter 2008 Financial Results
6. deCODE Requests Hearing With Nasdaq Following Receipt of Staff Determination Letter
7. deCODE genetics Announces Third Quarter 2008 Financial Results
8. deCODE Study Expands Clinical Utility of deCODE AF(TM) for Improving the Diagnosis of Atrial Fibrillation and Preventing Stroke
9. Major Independent Study Underscores Utility of deCODE MI(TM) for Better Predicting Risk of Heart Attack, Informing Statin Therapy
10. deCODE to Integrate New Genetic Risk Factor for Type 2 Diabetes Into Its deCODEme(TM) Personal Genome Scan Service
11. deCODE Discovers Common Genetic Variations Contributing to Low Bone Mineral Density and Risk of Osteoporosis
Post Your Comments:
(Date:11/25/2015)... ... 25, 2015 , ... Jessica Richman and Zachary Apte, founders ... initial angel funding process. Now, they are paying it forward to other microbiome ... investments in the microbiome space. In this, they join other successful entrepreneurs-turned-angels ...
(Date:11/24/2015)... 2015 Halozyme Therapeutics, Inc. (NASDAQ: HALO ) will ... New York on Wednesday, December 2 at 9:30 a.m. ... and CEO, will provide a corporate overview. th ... at 1:00 p.m. ET/10:00 a.m. PT . Jim Mazzola ... a corporate overview. --> th Annual Oppenheimer Healthcare ...
(Date:11/24/2015)... CITY , Nov. 24, 2015 /PRNewswire/ - Aeterna ... request of IIROC on behalf of the Toronto Stock ... news release there are no corporate developments that would ... --> --> About ... . --> Aeterna Zentaris is ...
(Date:11/24/2015)... ... ... The Academy of Model Aeronautics (AMA), led by its Executive Council, has officially ... to represent the First–Person View (FPV) racing community. , FPV racing has exploded in ... racing and several new model aviation pilots have joined the community because of their ...
Breaking Biology Technology:
(Date:11/9/2015)... JOSE, Calif. , Nov. 9, 2015  Synaptics ... human interface solutions, today announced broader entry into the ... vehicle-specific solutions that match the pace of consumer electronics ... and biometric sensors are ideal for the automotive industry ... vehicle. Europe , ...
(Date:10/29/2015)... RESTON, Va. , Oct. 29, 2015 ... announced today that it has released a new version ... Daon customers in North America ... gains. IdentityX v4.0 also includes a FIDO UAF ... customers are already preparing to activate FIDO features. These ...
(Date:10/27/2015)... , Oct. 27, 2015 In the present ... of concern for various industry verticals such as banking, ... to the growing demand for secure & simplified access ... ,sectors, such as hacking of bank accounts, misuse of ... equipment such as PC,s, laptops, and smartphones are expected ...
Breaking Biology News(10 mins):