Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


International study identifies gene variants associated with early heart attack

Findings may improve understanding of underlying biology, determine preventive needs

The largest study ever completed of genetic factors associated with heart attacks has identified nine genetic regions – three not previously described – that appear to increase the risk for early-onset myocardial infarction.

The report from the Myocardial Infarction Genetics Consortium, based on information from a total of 26,000 inviduals in 10 countries, will appear in Nature Genetics and is receiving early online release.

"For several decades, it has been known that the risk for heart attack – the leading cause of death and disability in the U.S. – clusters in families and that some of this familial clustering is due to differences in DNA sequence," says Sekar Kathiresan, MD, director of Preventive Cardiology at Massachusetts General Hospital (MGH) and corresponding author of the Nature Genetics report. "We set out to find specific, single-letter differences in the genome, what are called single-nucleotide polomorphisms (SNPs), that may be responsible for an increased familial risk for heart attack."

Groundwork for the current study was laid more than 10 years ago when co-author Christopher O'Donnell, MD, now based at the Framingham Heart Study, began to gather data on patients treated at the MGH for early-onset heart attack – men under 50 and women under 60. Kathiresan soon joined the project, and in 2006 they formed the Myocardial Infarction Genetics Consortium along with David Altshuler, MD, PhD, of the MGH Center for Human Genetic Research and the Broad Institute of MIT and Harvard, eventually involving six groups around the world that had collected samples on a total of about 3,000 early-onset heart attack patients and 3,000 healthy controls.

The current study took advantage of several scientific tools developed over the past decade. These include the International Haplotype Map, a comprehensive map of SNPs across the genome; genotyping arrays that allow screening of hundreds of thousands of SNPs at once; and a gene chip developed by Altshuler's team that can simulaneously screen for SNPs and for copy-number variants – deletions or duplications of gene segments, a type of change associated with several disease categories. After analysis of the consortium's samples identified SNPs that could be associated with heart attack risk, the researchers ran replication screens in three independent groups of samples, resulting in a total of 13,000 heart attack patients and 13,000 controls.

Significant associations with the risk of early-onset heart attacks were found for common SNPs in nine genetic regions. Three of those associations with heart attack risk were identified for the first time; and one of the novel regions also had been found, in a separate study by O'Donnell, to promote the buildup of atherosclerotic plaque in the coronary arteries. To analyze the effect of inheriting several risk-associated SNPs, participants were assigned a genotype score, which revealed that those with the highest number of risk-associated variants had more than twice the risk of an early-onset heart attack as those with the fewest. No risk associations were identified with copy-number variants.

Although the increased risk associated with individual SNPs is small, knowledge gained from the association could prove extremely valuable. "One of the known variants we identified is at a gene called PCSK9, which was originally identified in 2003," explains Kathiresan, an assistant professor of Medicine at Harvard Medical School. "Extensive study of that gene region has led to significant insight into the biology of atherosclerosis and heart attack and to efforts to develop targeted drugs. We are optimistic that investigating the mechanics of the newly mapped variants could yield similar insights. And since we already have effective ways to reduce heart-attack risk, individuals at higher genetic risk may benefit from earlier intervention, something that needs to be tested in future studies."

Sue McGreevey | EurekAlert!
Further information:

More articles from Studies and Analyses:

nachricht Diagnoses: When Are Several Opinions Better Than One?
19.07.2016 | Max-Planck-Institut für Bildungsforschung

nachricht High in calories and low in nutrients when adolescents share pictures of food online
07.04.2016 | University of Gothenburg

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

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

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Oasis of life in the ice-covered central Arctic

24.10.2016 | Earth Sciences

‘Farming’ bacteria to boost growth in the oceans

24.10.2016 | Life Sciences

Light-driven atomic rotations excite magnetic waves

24.10.2016 | Physics and Astronomy

More VideoLinks >>>