14 Genetic Variations Associated with Heart Rate Discovered, Genome Study

Researchers have discovered 14 new genetic variations associated with heart rate based on a collaborate genome-wide study on individuals. These finding could provide a better understanding of genetic regulation of heart beat and is a first step towards identifying targets for new drugs to treat the problem, as heart rate is a marker of cardiovascular health.

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.

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, according to a press release.

"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 heart rhythm disorders."

Follow-up studies showed down-regulation of gene expression that when conducted on fruit flies and zebra fish show how genetic variations may affect heart rate. Twenty genes were identified with a role in heart rate regulation, signal transmission, embryonic development of the heart, as well as cardiac disorders

"Our findings in humans as well as in fruit flies 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 study, titled, "Identification of Heart Rate-Associated Loci and Their Effects on Cardiac Conduction and Rhythm Disorders," is published online in the April issue of Nature Genetics.