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Last updated on April 16, 2014 at 4:54 EDT

deCODE Discovers Major Genetic Risk Factor for the Most Common Form of Glaucoma

September 13, 2010

REYKJAVIK, Iceland, September 13, 2010 /PRNewswire-FirstCall/ –

– SNP on Chromosome 7 is Rare Among Chinese but Confers Five-Fold
Increase in Risk; Underscores Importance of Analyzing Risk Factors Across
Continental Ancestries

Scientists at deCODE genetics and academic colleagues from Iceland,
China, Sweden, the UK and Australia today report the discovery of the most
important single-letter variation (SNP) in the sequence of the human genome
yet associated with risk of primary open-angle glaucoma. This is the most
common form of glaucoma and a major cause of blindness worldwide.

The SNP on chromosome 7q31 is common among Europeans, with approximately
6% of people of European ancestry carrying two copies of the at-risk version,
putting them at roughly 60% greater risk of developing the disease than those
who carry none. But among Chinese, the impact of the SNP is markedy
different. In study groups from Hong Kong and Shantou, the at-risk version of
the SNP is shown to be carried by less than 1% the population, but each copy
carried confers a more than five-fold increase in risk. The SNP is near the
genes encoding caveolin 1 and 2, membrane proteins that are expressed in the
meshwork that drains fluid from the eye, a process that if disturbed can
increase pressure on the optic nerve and lead to glaucoma.

“The key to reducing the personal and public health impact of glaucoma is
early diagnosis and treatment to slow the loss of sight. Discoveries such as
today’s, which follows on our previous landmark findings in exfoliation
glaucoma, are important because we can fold them directly into tests to
target screening and to detect and treat more disease earlier. Moreover,
among Chinese this latest SNP alone can define a small fraction of the
population that should be very carefully screened. This underscores the value
of being able to systematically analyze the impact of genetic risk factors
across continental ancestries. Not only are these markers medically useful,
they also tell us a bit about evolution and the spread of humanity across the
globe,” said Kari Stefansson, deCODE’s Executive Chairman and President of
Research and senior author of the study.

The authors would like to thank the more than 40,000 people who
participated in this study, both glaucoma patients and control subjects. The
paper, “Common variants near CAV1 and CAV2 are associated with primary
open-angle glaucoma,” is published online in Nature Genetics at
http://www.nature.com/ng and will appear in an upcoming print edition of the
journal.

Primary open-angle glaucoma is a disease in which the optic nerve becomes
damaged, leading to a progressive loss of sight. It affects tens of millions
of people worldwide, mostly those over the age of 50. Incidence increases
with age and varies between populations. Other known risk factors include
high blood pressure and diabetes. Current treatments include eye drops that
reduce pressure on the optic nerve, as well as surgery.

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
Glaucoma(TM); deCODE T2(TM) for type 2 diabetes; deCODE AF(TM) for atrial
fibrillation and stroke; deCODE MI(TM) for heart attack; deCODE
ProstateCancer(TM); 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.

    Contacts:

    Edward Farmer
    +354-863-1923
    edward.farmer@decode.is

    Gisli Arnason
    +354-570-1900
    info@decode.is

SOURCE DeCODE Genetics Inc


Source: newswire