A paper published today in the journal Nature describes
the discovery by scientists at deCODE genetics (Nasdaq:DCGN),
in collaboration with academic colleagues in Iceland, the
United States, Sweden and China, of two common single-letter
variations in the genome (SNPs) conferring risk of atrial
fibrillation (AF). AF is the most common cardiac arrhythmia
and is also the leading cause of cardiogenic stroke. The
variants, located on chromosome 4q25, confer an approximately
70% and 40% increase above average risk of AF, respectively,
per copy carried. Approximately one third of people of European
ancestry carry at least one copy of one of the risk variants,
and deCODE’s results show that those who carry two copies
of the more powerful variant are at a more than 250% greater
likelihood of AF than those who carry neither variant. The
gene nearest to these SNPs, PITX2, is known to play an important
role in the development of the heart.
deCODE also today launched deCODE AF™, a reference laboratory
test for the variants. Because AF is the biggest risk factor
for cardiogenic stroke, the company believes that testing
for these variants will provide doctors with a targeted and
cost-effective means of identifying those who should be intensively
monitored for AF. Current best clinical practice recommends
that stroke patients with AF can significantly reduce their
risk of a second stroke by taking the anticoagulant drug
warfarin.
“This is an important discovery with an immediate clinical
application. Transient AF is difficult to detect in many
patients, and it is impractical and too costly to conduct
extended cardiac monitoring on all patients with stroke and
transient ischemic attack. With the discovery of these variants,
and the availability of a test to detect them, doctors may
now be able focus monitoring on those most likely to have
transient AF and then match therapy to the etiology of an
individual’s disease. This study is also impressive in that
it took us only seven months from the beginning of the search
for AF variants to today’s publication and the launch of
the test. This speaks very clearly to the power of our gene
discovery capabilities and our product development group,”
said Kari Stefansson, CEO of deCODE and a board-certified
neurologist.
deCODE discovered
the variants, the “T” alleles of SNPs rs2200733 and rs10033464,
through analysis of more than more than 300,000 SNPs in
a total of more than 5,000 Icelanders with atrial fibrillation
and/or atrial flutter as well as healthy control subjects.
These findings were subsequently replicated in case-control
cohorts from Iceland, the Massachusetts General Hospital
in Boston, and the Karolinska Institute in Stockholm, including
a total of 18,000 subjects. The stronger variant was also
confirmed in a Han Chinese population from Hong Kong. In
this group the variant conferred a slightly smaller increase
in risk than in the other cohorts, but 75% of those studied
carried at least one copy. Thus while the population-attributable
risk (PAR) – roughly the proportion of cases that not exist
were these variants not present - of the two variants in
people European ancestry is approximately 20%, the first
variant alone has a PAR of nearly 35% in Han Chinese. The
article is published today in the online edition of Nature
at www.nature.com and will appear in an upcoming print
edition of the journal.
How to order deCODE AF™
deCODE AF™
is performed in deCODE’s Clinical Laboratory Improvement
Amendments (CLIA) certified laboratory, and must be authorized
by a qualified physician. If you are a doctor interested
in learning more about deCODE T2™ for your patients, or
an individual who would like more information to discuss
with your doctor, we invite you to visit our website, at
www.decodediagnostics.com.
About deCODE
deCODE is
a biopharmaceutical company applying its discoveries in
human genetics to the development of drugs and diagnostics
for common diseases. deCODE is a global leader in gene
discovery — our population approach and resources have
enabled us to isolate key genes contributing to major public
health challenges from cardiovascular disease to cancer,
genes that are providing us with drug targets rooted in
the basic biology of disease. deCODE is also leveraging
its expertise in human genetics and integrated drug discovery
and development capabilities to offer innovative products
and services in DNA-based diagnostics, bioinformatics,
genotyping, structural biology, drug discovery and clinical
development. deCODE is delivering on the promise of the
new genetics.SM Visit us on the web at www.decode.com.
Any statements contained in this presentation that relate
to future plans, events or performance are forward-looking
statements within the meaning of the Private Securities Litigation
Reform Act of 1995. These forward-looking statements are
subject to a number of risks and uncertainties that could
cause actual results to differ materially from those described
in the forward-looking statements. These risks and uncertainties
include, among others, those relating to technology and product
development, integration of acquired businesses, market acceptance,
government regulation and regulatory approval processes,
intellectual property rights and litigation, dependence on
collaborative relationships, ability to obtain financing,
competitive products, industry trends and other risks identified
in deCODE’s filings with the Securities and Exchange Commission.
deCODE undertakes no obligation to update or alter these
forward-looking statements as a result of new information,
future events or otherwise.
