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Gene variants for resting heart rate identified

16 April 2013

The resting heart rate is determined by heredity and gives an indication of the health status of the heart and blood vessels. Researchers from the University Medical Center Groningen (UMCG) and the Erasmus MC in Rotterdam, together with others in a large-scale partnership, have identified 14 new gene variants responsible for regulating the heart rate at rest. Hereditary predisposition to a high or low heart rate appears to carry a risk of various forms of cardiac dysryhthmia. The results were confirmed in experiments on fruit flies, which serve as a good model for studying the genetics and functions of the heart. The researchers are publishing their findings in this week’s edition of the leading scientific journal Nature Genetics.

The researchers conducted a genome-wide association study of 180,000 people in 65 studies. Various research groups from the UMCG worked together with a team from the Medical Research Council Epidemiology Unit in Cambridge, UK. The UMCG played an important part in the overall study by providing data from the PREVEND study and the large-scale cohort study, LifeLines, while the Erasmus MC supplied data from the large-scale cohort study, ‘The Rotterdam Study’, which is being carried out in the city’s Ommoord district. The research led to the discovery of 14 new gene variants, which are linked to the resting heart rate. ‘We examined the entire genome hoping to find gene variants that had not yet been associated with regulating the heart rate,’ explains Prof. Harold Snieder, one of the senior authors of the publication.

UMCG researchers carried out experiments on fruit flies in order to gain a better understanding of how gene variants can affect the heart rate. This enabled them to verify the impact of various genes on heart rate regulation. It had already been established that the genes affect embryonic development of the heart and signal conduction, and play a part in certain heart abnormalities such as a dilated heart muscle, heart failure and sudden cardiac death. ‘Our study has tripled the number of gene variants that are known to affect the heart rate. We have also discovered that some variants are linked to other risk factors for cardiovascular disease and cardiac dysryhthmia,’ say the researchers. ‘Our findings in humans and the refined combination with experiments in fruit flies have broadened our understanding of the mechanisms that regulate the resting heart rate. This is just the beginning, but we hope that our discoveries will help in the development of new drugs for cardiac dysryhthmia.’

Researchers from the UMCG working on the study, among others:

Prof. Harold Snieder, Genetic Epidemiology

Prof. Ody Sibon, Cell Biology

Dr Bianca Brundel, Clinical Pharmacology

From Erasmus MC:

Dr Mark Eijgelsheim, Epidemiology

Prof. Bruno Stricker, Epidemiology and Internal Medicine.

From the Medical Research Council, Cambridge:

Dr Ruth Loos, Epidemiology

Dr Marcel den Hoed, Epidemiology.

Last modified:15 September 2017 3.31 p.m.
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