Study identifies new gene variations associated with heart rate

April 14, 2013, The Mount Sinai Hospital

Through a collaborative genome-wide study on individuals, researchers have discovered 14 new genetic variations that are associated with heart rate. Since heart rate is a marker of cardiovascular health, these findings could provide a better understanding of genetic regulation of heart beat and is a first step towards identifying targets for new drugs to treat cardiovascular disease.

The study, titled, "Identification of Heart Rate-Associated Loci and Their Effects on Cardiac Conduction and Rhythm Disorders," was published online this week in the April issue of Nature Genetics. Led by researchers at the Icahn School of Medicine at Mount Sinai and the Medical Research Council Epidemiology Unit in Cambridge, UK, the collaboration involved 268 researchers from 211 institutions, as well as six large research consortia joined forces.

In order to gain new insights into the genetic regulation of heart rate, Dr. Ruth Loos, Director of the Genetics of Obesity and Related Metabolic Traits Program at the Charles Bronfman Institute for Personalized Medicine at Mount Sinai and honorary investigator at the Medical Research Council Epidemiology Unit and her team, spent three years working on a genome-wide association study using data from 181,171 participants from 65 studies during 2009-2012. "Without any prior hypothesis, we studied the entire human genome hoping to identify new genetic variations that no one before had even imagined would play a role in the regulation of heart rate," said Dr. Loos, senior author of the study. "This discovery is just the beginning of something new and exciting and can hopefully be used to identify new drugs that can be used for the treatment of ."

In a follow-up study, experimental down- was then conducted on fruit flies and , to better understand how genetic variations might affect heart rate. These experiments identified 20 genes with a role in heart rate regulation, signal transmission, embryonic development of the heart, as well as cardiac disorders, such as dilated cardiomyopathy, congenital heart failure and sudden heart failure. "Our findings in humans as well as in and zebrafish provide new insights into mechanisms that regulate heart rate," said Dr. Marcel den Hoed, post-doctoral fellow at the Medical Research Council Epidemiology Unit and lead author of the study.

The follow-up study also showed that a genetic susceptibility for higher heart rate is associated with altered and a reduced risk of sick sinus syndrome, a common indicator for pacemaker implantation. "Our study tripled the number of genetic variations that are known to be associated with heart rate, some of which are also associated with other cardiovascular risk factors and with heart rhythm disorder," said Dr. Loos.

Explore further: Genetic variant increases risk of heart rhythm dysfunction, sudden death

More information: Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders, DOI: 10.1038/ng.2610

Related Stories

Genetic variant increases risk of heart rhythm dysfunction, sudden death

May 30, 2012
Cardiovascular researchers at the University of Cincinnati (UC) have identified a genetic variant in a cardiac protein that can be linked to heart rhythm dysfunction.

A heart-rate-reducing medication reduces the risk of heart failure and cardiac fibrosis

July 28, 2011
The findings of a Montreal Heart Institute (MHI) study published in the scientific journal Cardiology suggest that ivabradine, a heart rate reduction medication, is also effective in reducing the risk of diastolic heart failure ...

New guidelines for cardiovascular genetic testing

May 6, 2011
An international panel of experts from The Heart Rhythm Society and the European Heart Rhythm Association issued new guideline recommendations for all health care professionals about cardiovascular genetic testing at the ...

Recommended for you

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

Study advances gene therapy for glaucoma

January 16, 2018
While testing genes to treat glaucoma by reducing pressure inside the eye, University of Wisconsin-Madison scientists stumbled onto a problem: They had trouble getting efficient gene delivery to the cells that act like drains ...

How incurable mitochondrial diseases strike previously unaffected families

January 15, 2018
Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...

Genes that aid spinal cord healing in lamprey also present in humans

January 15, 2018
Many of the genes involved in natural repair of the injured spinal cord of the lamprey are also active in the repair of the peripheral nervous system in mammals, according to a study by a collaborative group of scientists ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.