(Press-News.org) In an unprecedented international project, researchers have found multiple genetic mutations that play a role in heart attack or coronary artery disease (CAD) risk.
The Coronary ARtery DIsease Genome-wide Replication And Meta-Analysis (CARDIoGRAM) — published in Circulation: Cardiovascular Genetics, an American Heart Association journal — consists of data from every published whole-genome study on genetic mutations in heart attack or CAD risk. Researchers are also pooling data from several unpublished genome-wide association studies to see if any new mutations can be uncovered.
The consortium will analyze the complete genetic profiles of more than 22,000 people of European descent with CAD or a heart attack history, and 60,000 healthy people — 10 times more than in the next largest whole-genome study to date.
Investigators have examined an average 2.2 million single nucleotide polymorphisms (SNPs) in each of the whole-genome studies included in the review. SNPs, or "snips," are genetic variants at specific locations on individual chromosomes. Sometimes these variants manifest themselves as a disease or susceptibility to a disease. Modern technology allows hundreds of thousands of SNPs to be scanned in a person.
"Only a small proportion of the inheritability of CAD has been explained," said Heribert Schunkert, M.D., a professor of medicine at the University of Lübeck in Germany and a spokesman for CARDIoGRAM. "We have to accept that almost all persons of European ancestry carry multiple small genetic defects that mediate some coronary artery disease risk. The main aim of the consortium is to identify new disease mechanisms to improve risk prevention."
The task is challenging because of the complex nature of atherosclerosis, with multiple genetic factors contributing in small ways to the disease, he said.
Genome-wide association studies provide an unprecedented sensitivity to detect genetic variants affecting disease risk, and researchers rely on the studies' sample size. However, in a typical genome-wide association study with about 1,000 patients and controls, the power to detect a SNP with a significant effect is low.
"Collectively, our consortium increases the power of these findings 10-fold," Schunkert said. "By pooling all of the published and unpublished data, we hope to make discoveries that might have been overlooked. Given that up to 2.5 million comparisons are carried out, in parallel, for each whole-genome scan, distinguishing between true and false associations has been difficult."
The data will be maintained in a central database, and each SNP that appears related to heart disease will be subjected to replication studies to confirm its significance. Numerous SNPs and the proteins they express increase risk of CAD or heart attack. But it's unknown whether they're acting alone or with other genetic variables, Schunkert said.
"We hope that by combining all of the known whole-genome data, we will be able to provide some answers," he said.
INFORMATION:
Author disclosures, funding sources and participating research institutions are on the manuscript.
Statements and conclusions of study authors published in American Heart Association scientific journals are solely those of the study authors and do not necessarily reflect the association's policy or position. The association makes no representation or guarantee as to their accuracy or reliability. The association receives funding primarily from individuals; foundations and corporations (including pharmaceutical, device manufacturers and other companies) also make donations and fund specific association programs and events. The association has strict policies to prevent these relationships from influencing the science content. Revenues from pharmaceutical and device corporations are available at www.americanheart.org/corporatefunding.
Additional resources:
Downloadable stock footage, animation, and our image gallery are located at www.heart.org/news under Multimedia.
Stay up to date on the latest news from American Heart Association scientific meetings, including Scientific Sessions 2010, by following us at www.twitter.com/heartnews. We will be tweeting from the conference using hashtag #AHA10News.
NR10 – 1128 (Circulation/Schunkert)
END
In a comparison of outcomes in Arizona for out-of-hospital cardiopulmonary resuscitation (CPR) for cardiac arrest performed by bystanders, patients who received compression-only CPR were more likely to survive to hospital discharge than patients who received conventional CPR or no CPR, according to a study in the October 6 issue of JAMA.
Out-of-hospital cardiac arrest is a major public health problem, affecting approximately 300,000 individuals in the United States annually. Although survival rates vary considerably, outcomes can be improved with bystander CPR. In 2005, ...
Placing speed cameras on roads reduces the number of road traffic injuries and deaths, concludes a team of researchers from The University of Queensland, in Brisbane, Australia. Their findings are published this month in The Cochrane Library. Preventing road traffic injuries is of global public health importance.
The World Health Organization predicts that by 2020 road traffic crashes will have moved from ninth to third in the rank of causes of poor health. Speed cameras are one of the measures that authorities can use to reduce traffic speed in the hope of preventing ...
From 1998 to 2007, the use of CT or MRI scans in emergency departments for injury-related conditions increased about 3-fold without a similar increase in the prevalence of the diagnosis of certain life-threatening trauma-related conditions, according to a study in the October 6 issue of JAMA.
Injury-related conditions are among the most common reasons for visits to emergency departments in the United States. "The widespread availability of advanced radiology (computed tomography [CT] and magnetic resonance imaging [MRI]) and the associated diagnostic superiority in identifying ...
Patients with a severe traumatic brain injury (and not in shock because of blood loss) who received out-of-hospital administration of hypertonic fluids (a solution with increased concentration of certain electrolytes and thought to help reduce intracranial pressure) as initial resuscitation did not experience better 6-month neurologic outcomes or survival compared to patients who received a normal saline solution, according to a study in the October 6 issue of JAMA.
Traumatic brain injury (TBI) is the leading cause of death following blunt trauma, and survivors often ...
Giving vitamin D supplements to healthy children with normal vitamin D levels does not improve bone density at the hip, lumbar spine, forearm or in the body as a whole, according to a new Cochrane Systematic Review.
Building bone density in children helps protect against osteoporosis in later life. Osteoporosis is a condition where bones are weak, brittle and break easily. Vitamin D helps the body absorb calcium from food, reduces losses of calcium from the body and encourages calcium deposition into bone. Bone density is a major measure of bone strength and measures ...
When compared with placebo and other drugs, long-term use of finasteride improves urinary tract symptoms associated with benign prostatic hyperplasia, and reduces disease progression. This conclusion comes from combining the findings of 23 randomized clinical trials that evaluated almost 21,000 men, and is published this month in The Cochrane Library.
Finasteride is frequently given to men who have lower urinary tract symptoms (LUTS) such as frequent voiding at night (nocturia), incomplete emptying, hesitancy, weak stream, and frequent and urgent urination. The symptoms ...
There is no evidence that increasing the dose of inhaled corticosteroids at the onset of an asthma exacerbation, as part of a patient-initiated action plan, reduces the need for rescue oral corticosteroids. This is the conclusion of work published in The Cochrane Library this month.
There are two mechanisms acting in the lungs of people with asthma. The first is called bronchoconstriction, which is when people's airways constrict during an asthma attack, making it much harder for them to move air in and out of their lungs. The first line treatment for this sort of acute ...
Diabetes is the leading reason for kidney failure in the world, resulting in patients requiring dialysis or kidney transplantation. New research has found a cell in the kidney called the podocyte could be the key to understanding why this happens.
The study led by Dr Richard Coward, in the School of Clinical Sciences at the University of Bristol, is published in Cell Metabolism and funded by the Medical Research Council (MRC).
Diabetes related kidney disease has previously been thought to be mainly due to the high levels of sugar in the blood damaging the small blood ...
Kyoto, Japan -- Knowing how to build nanosized assemblies of polymers (long molecular chains) holds the key to improving a broad range of industrial processes, from the production of nanofibers, filters, and new materials to the manufacture of low-energy, nanoscale circuits and devices. A recent paper in Nature Communications sheds light on key behaviors of polymers in specially engineered confined spaces, opening the door to a level of control that has previously been impossible.
Scientists in Japan at Kyoto University and Nagoya University have succeeded in manufacturing ...
Members of the European Parliament are calling on the Presidency of the EU and Member States to tackle urgently the problem of chronic non-communicable diseases that are responsible for 86% of all deaths in the WHO European Region. Their call is supported by an alliance of European health professionals, including ECCO – the European CanCer Organisation – and ESMO – the European Society for Medical Oncology.
After a meeting later today (Tuesday) between MEPs and the Chronic Disease Alliance of ten not-for-profit European organisations that represent over 100,000 health ...
