deCODE Finds Genetic Factors Impacting Key Clinical Measurements of Heart Activity and Disease Risk
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(HealthNewsDigest.com) – REYKJAVIK, Iceland,–Novel SNPs Modulate ECG Measurements Including Heart Rate, Two are Also
Risk Factors for Atrial Fibrillation and Will be Integrated Into deCODE AF(TM) Test
Scientists at deCODE genetics today report the discovery of seven novel
and common single-letter variations in the sequence of the human genome
(SNPs) that are involved in modulating the electrical impulses that govern
the working of the heart. Two of these SNPs, which correlate with
electrocardiogram (ECG or EKG) measurements that are used in the clinical
evaluation of heart health and activity, were then shown to confer increased
risk of atrial fibrillation (AF), one of the most common causes of irregular
heartbeat and a leading cause of stroke. The paper, “Several common variants
modulate heart rate, PR interval and QRS duration,” is published online in
Nature Genetics at http://www.nature.com/ng, and will appear in an upcoming
print addition of the journal.
The deCODE team began by correlating ECG measurements with genome-wide
SNP data from more than 40,000 Icelandic participants in its gene discovery
program. This search identified one novel SNP influencing heart rate and four
each linked to PR interval and QRS duration, measurements of how quickly the
electrical impulses that cause the heart muscles to pump achieve their
purpose. Intriguingly, SNPs on chromosome 3 linked to both longer PR interval
and QRS duration are in the gene encoding SCN10A, a sodium channel that has
never before been linked to heart activity. Individuals with the same
variants were also more likely to have been fitted with a pacemaker. A
follow-on analysis of all of the novel SNPs in Icelandic and Norwegian heart
patients and controls demonstrated the association of two of the SNPs linked
to PR interval to risk of AF, and another SNP to increased risk of advanced
atrioventricular block. Two other papers published today in the same journal
provide further validation of some of the deCODE findings.
“Over the past two years, we have discovered major genetic risk factors
for heart disease and stroke and introduced tests for these risk factors into
clinical practice. We are building the power of these tests through our
ongoing discovery work, and today’s findings demonstrate again the
fruitfulness of using intermediate risk factors and clinical measurements as
entry points for finding risk factors for disease. Our population resources
enable us to do so efficiently and with exciting results. These latest
findings will be incorporated into our deCODE AF test and deCODEme scans, and
certain of these discoveries may also provide opportunities for outlicensing
for therapeutic development,” said Kari Stefansson, CEO of deCODE.
About deCODE
deCODE is a global leader in analysing and understanding the human
genome. deCODE has identified key variations in the sequence of the genome
conferring increased risk of major public health challenges from
cardiovascular disease to cancer, and employs its gene discovery engine to
develop DNA-based tests to assess individual risk of common diseases; to
license its tests and intellectual property to partners; and to provide
comprehensive, leading- edge contract 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.
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