Medical relevance

Elevated resting heart rate is associated with an increased risk of heart disease and death. It is a hereditary trait, but the gene variations involved are largely unknown. “Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets”, the researchers report in last week’s edition of the prestigious scientific journal Nature Genetics.

 

Genetic variants

The genetic variants are so-called Single Nucleotide Polymorphisms (SNPs) - pronounced 'snips'. SNPs are DNA sequence variations where a single nucleotide (A, C, G or T) at a certain position on a chromosome is variable.

 

180,000 participants

The SNPs were identified in a large international study involving as many as 180,000 participants, including participants of the European HYPERGENES project.

 

Flies and fish

To understand how the genetic variants affect heart rate, the scientists also studied fruit flies and zebrafish. These studies showed that the chromosomal regions are involved in specific processes such as heart signal transmission, embryonic heart development and several types of heart disease.

“Our discoveries are just the beginning, but they will hopefully contribute to the development of new drugs for the treatment of heart rhythm problems”, says Prof. Harold Snieder of the University Medical Centre Groningen (The Netherlands).

 

Further reading

Read about European heart research on www.HorizonHealth.eu’s project pages ARITMO, CARE-MI and METACARDIS.

Read about European research on the genetic basis of complex diseases on www.HorizonHealth.eu’s project pages COGS, DDPDGENES, METACARDIS, PRO-NEST and SYSCOL.