New genetic variations associated with heart rate have been identified in a collaborative genome-wide study in which 268 researchers from 211 institutions, as well as six large research consortia joined forces. PredSL PI Harold Snieder contributed to this study. Since heart rate is a marker of cardiovascular health, researchers anticipated that a better understanding of its genetic regulation might provide 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 last week in the April issue of Nature Genetics.
To gain new insights into the genetic regulation of heart rate, the rseearchers spent three years working on a genome-wide association study using data from 181,171 participants from 65 studies during 2009-2012. This effort resulted in the discovery of 14 new genetic variations that are associated with heart rate. Without any prior hypothesis, the entire human genome was studied, hoping to identify new genetic variations that no one before had even imagined would play a role in the regulation of heart rate. Experimental down-regulation of gene expression was then conducted on fruit flies and zebrafish, 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 cardiac disorders, such as dilated cardiomyopathy, congenital heart failure and sudden heart failure. The findings in humans as well as in fruit flies and zebrafish provide new insights into mechanisms that regulate heart rate.