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Researchers identify 14 new gene variations linked to heart rate

(Xinhua)

16:12, April 15, 2013

WASHINGTON, April 14 (Xinhua) -- Researchers have discovered 14 new genetic variations that are associated with heart rate, according to a study published online Sunday in the journal Nature Genetics.

In order to gain new insights into the genetic regulation of heart rate, researchers at the Icahn School of Medicine at Mount Sinai and their collaborators worldwide 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 Ruth 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."

In a follow-up study, experimental down-regulation of gene expression was then conducted on fruit flies and zebra fish, to better understand how genetic variations might affect heart rate.

These experiments identified a total of 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.

The follow-up study also showed that a genetic susceptibility for higher heart rate is associated with altered cardiac conduction 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 Loos.

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