deCODE Shows how Genetic Risk of Kidney Disease Frames Response to Environmental Risk Over Time

July 29, 2010

REYKJAVIK, Iceland, July 29, 2010 /PRNewswire-FirstCall/ — Scientists at
deCODE genetics and colleagues at Radboud University in the Netherlands today
describe how the impact of a single letter variation in the sequence of the
human genome (SNP) conferring risk of kidney disease varies with age and with
the onset of other diseases. The study provides independent confirmation of
the association made in an earlier study between a version of the the SNP,
located on chromosome 16p12, and risk of chronic kidney disease (CKD). It
also confirmed the link between the SNP and concentrations of serum
creatinine (SCr), a key indicator of kidney function. But the deCODE team
then used its detailed population-based data in Iceland to go further,
demonstrating that the impact of the at-risk version SNP on risk of kidney
disease and SCr increases with age and if carriers develop high blood
pressure or type 2 diabetes. At the same time, the SNP was shown in a large
Icelandic and Dutch case-control cohort to protect against the formation of
kidney stones.

“The common diseases happen at the interface between genes and the
environment, and this study offers a clear and medically useful example of
this dynamic in action. This SNP is now a validated risk factor for kidney
disease, but we have also shown how it can be made even more meaningful if
looked at in the context of age and broader health history. It is directly
adjacent to the gene econding uromodulin, or UMOD, the most abundant protein
in human urine. It therefore appears that it confers risk by modulating how
the kidneys adapt to age itself and to the accumulation of environmental
insults, such as hypertension and diabetes, over time. We believe this
mechanism may be a fruitful subject for further research aimed at preventing
and treating kidney disease,” said Kari Stefansson, deCODE’s Executive
Chairman and President of Research and senior author of the study.

The paper, “Association of variants at UMOD with chronic kidney disease
and kidney stones – role of age and comorbid diseases,” is published online
in the open-access journal PLOS Genetics, at http://www.plosgenetics.org.

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 key genetic risk factors for
dozens of common diseases ranging from cardiovascular disease to cancer.
deCODE employs its capabilities to develop DNA-based tests and personal
genome scans to better understand individual risk and empower prevention. It
also licenses its tests, intellectual property and analytical tools to
partners, and provides comprehensive genotyping, sequencing and data analysis
services to companies and research institutions around the globe. Through its
CLIA- and CAP-certified laboratory deCODE offers DNA-based tests for gauging
risk and empowering prevention of common diseases, including deCODE T2(TM)
for type 2 diabetes; deCODE AF(TM) for atrial fibrillation and stroke; deCODE
MI(TM) for heart attack; deCODE ProstateCancer(TM) for prostate cancer;
deCODE Glaucoma(TM) for a major type of glaucoma; and deCODE BreastCancer,
for the common forms of breast cancer. Through its pioneering personal genome
analysis service deCODEme(TM), deCODE enables individuals to better
understand their risk of dozens of common diseases and to learn about their
ancestry and other traits. Visit us on the web at http://www.decode.com; at
http://www.decodediagnostics.com; at http://www.decodeme.com; and on our blog
at http://www.decodeyou.com.


    Edward Farmer

    Gisli Arnason

SOURCE DeCODE Genetics Inc

Source: newswire

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