Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers discover new genetic variants associated with increased risk of stroke

16.04.2009
Scientists have identified a previously unknown connection between two genetic variants and an increased risk of stroke, providing strong evidence for the existence of specific genes that help explain the genetic component of stroke.

The research was funded by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health and by several other NIH institutes and centers.

The analysis of over 19,000 participants is published online on April 15, 2009, by the New England Journal of Medicine and will appear in print on April 23, 2009.

The genetic variants were discovered by analyzing the genomes of individuals from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. This extensive resource includes participants from the Framingham Heart Study, Atherosclerosis Risk in Communities study, Cardiovascular Health Study and Rotterdam Study.

"This study, which integrates longstanding observational trials such as Framingham with cutting edge genomic technologies, moves us closer to the era of personalized medicine," said NHLBI Director Elizabeth G. Nabel, M.D. "As we learn more about the role that an individual's unique genetic makeup plays in their overall health, we will ultimately be able to tailor care to better diagnose, prevent, and treat conditions such as stroke."

Stroke is the third leading cause of death in the United States and causes serious long-term disabilities for many Americans.

The research team included Sudha Seshadri, M.D., associate professor of neurology, and Philip A. Wolf, M.D., principal investigator of the Framingham Heart Study and professor of neurology, Boston University School of Medicine, and involved investigators from numerous universities. Supported by a grant from the National Institute of Neurological Disorders and Stroke (NINDS), Dr. Wolf has studied the risk factors for stroke in the Framingham Heart Study over the past three decades.

The researchers discovered that two previously unsuspected common genetic variants or single-nucleotide polymorphisms (SNPs, pronounced 'snips') were consistently associated with total stroke (all types) and ischemic stroke in white persons. The SNPs were located on chromosome 12p13 near the gene NINJ2, which encodes ninjurin2, a member of the ninjurin nerve-injury-induced protein family.

"Consistent with the discoveries from genome-wide association studies in many other common disorders, the risk of stroke associated with these SNPs is not sufficiently high to make an individual change their stroke prevention plan. However, the results will lead scientists to direct their attention to new, important biologic mechanisms and hopefully new treatments to prevent stroke," noted Walter Koroshetz, M.D., deputy director of NINDS.

The association of one of the genetic variants was replicated in two independent samples: North American black persons and Dutch white persons. The association held when the analyses were adjusted for systolic blood pressure, hypertension, diabetes, atrial fibrillation, and current smoking.

"This impressive report shows how the power of genome-wide association studies can be enhanced by pooling data from large, population-based studies that follow participants over long periods of time. It also underscores the value of replicating initial results in populations with different demographics," said National Human Genome Research Institute Acting Director Alan E. Guttmacher, M.D.

Genome-wide association studies (GWAS) are a relatively new tool that allow researchers to rapidly scan the complete set of DNA (a genome) of many individuals in order to find genetic variations, or misspellings, associated with a particular disease or condition. This technique has revealed numerous relationships between genetic variations and conditions such as type 2 diabetes, obesity, and heart disorders. GWAS are possible due to the completion of the human genome in 2003 and the International HapMap Project in 2005, the advent of powerful information technology, and the participation of thousands of study volunteers whose confidentiality is safeguarded.

"Discovering genes for stroke has been a challenge in part because there are many different types of stroke. These results provide strong evidence for a previously unknown gene that may predispose to stroke and suggests that more genes will be discovered – improving our chances of reducing the toll from this important public health problem," said Christopher O'Donnell, M.D., M.P.H., senior advisor to the NHLBI Director for genome research and associate director of the Framingham Heart Study.

There are two major types of stroke. The most common kind, ischemic stroke, is caused by a blood clot that blocks a blood vessel in the brain. The second type, hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into or around the brain. Stroke causes permanent brain injury. Stroke survivors suffer from disability that varies from mild to extremely severe.

The research was funded by NHLBI grants and contracts and was also supported by the National Human Genome Research Institute (NHGRI), National Center for Research Resources (NCRR), National Institute on Aging (NIA), National Institute of Diabetes and Digestive and Kidney Disorders (NIDDK), National Institute of Neurological Disorders and Stroke (NINDS), and the NIH Roadmap.

To interview an NHLBI spokesperson, contact the NHLBI Communications Office at 301-496-4236 or at nhlbi news@nhlbi.nih.gov. To interview Dr. Seshadri or Dr. Wolf, contact Gina Digravio or Michelle Roberts at 617-638-8491.

Part of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at www.nhlbi.nih.gov.

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its Web site, www.genome.gov.

The National Center for Research Resources, part of NIH, provides laboratory scientists and clinical researchers with the resources and training they need to understand, detect, treat and prevent a wide range of diseases. NCRR supports all aspects of translational and clinical research, connecting researchers, patients and communities across the nation. For more information, visit www.ncrr.nih.gov.

The NIA leads the federal effort supporting and conducting research on aging and the medical, social and behavioral issues of older people. For more information on research and aging, go to www.nia.nih.gov.

NIDDK, part of NIH, conducts and supports basic and clinical research and research training on some of the most common, severe and disabling conditions affecting Americans. The Institute's research interests include: diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition, and obesity; and kidney, urologic and hematologic diseases. For more information, visit www.niddk.nih.gov.

NINDS (www.ninds.nih.gov) is the nation's primary supporter of biomedical research on the brain and nervous system.

The National Institutes of Health — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Resources

NIH Launches Extensive Open-Access Dataset of Genetic and Clinical Data – Landmark Framingham Heart Study Forms Foundation,

http://public.nhlbi.nih.gov/newsroom/home/GetPressRelease.aspx?id=2460

Framingham Heart Study,
http://www.framinghamheartstudy.org/

NHLBI Communications Office | EurekAlert!
Further information:
http://www.nhlbi.nih.gov

More articles from Life Sciences:

nachricht Discovery of a Key Regulatory Gene in Cardiac Valve Formation
24.05.2017 | Universität Basel

nachricht Carcinogenic soot particles from GDI engines
24.05.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Physicists discover mechanism behind granular capillary effect

24.05.2017 | Physics and Astronomy

Measured for the first time: Direction of light waves changed by quantum effect

24.05.2017 | Physics and Astronomy

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>