Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality

Nat Genet. 2016 Dec;48(12):1557-1563. doi: 10.1038/ng.3708. Epub 2016 Oct 31.


Resting heart rate is a heritable trait correlated with life span. Little is known about the genetic contribution to resting heart rate and its relationship with mortality. We performed a genome-wide association discovery and replication analysis starting with 19.9 million genetic variants and studying up to 265,046 individuals to identify 64 loci associated with resting heart rate (P < 5 × 10-8); 46 of these were novel. We then used the genetic variants identified to study the association between resting heart rate and all-cause mortality. We observed that a genetically predicted resting heart rate increase of 5 beats per minute was associated with a 20% increase in mortality risk (hazard ratio 1.20, 95% confidence interval 1.11-1.28, P = 8.20 × 10-7) translating to a reduction in life expectancy of 2.9 years for males and 2.6 years for females. Our findings provide evidence for shared genetic predictors of resting heart rate and all-cause mortality.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / mortality*
  • Female
  • Genetic Loci / genetics*
  • Genetic Variation / genetics*
  • Genome-Wide Association Study*
  • Genomics / methods*
  • Heart Rate
  • Humans
  • Male
  • Middle Aged
  • Rest / physiology*
  • Risk Factors
  • Survival Rate