AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans

Psychophysiology. 2009 May;46(3):466-72. doi: 10.1111/j.1469-8986.2009.00802.x.


Previous evidence suggests that the dual-specific A kinase-anchoring protein 2 functional polymorphism (AKAP10 (A/G) I646V) influences heart rate (HR) and heart rate variability (HRV) in mice and humans (N=122) with cardiovascular disease. Here, we asked whether this AKAP10 variant predicts HR and HRV in a large sample of healthy humans. Resting HR and short-term time and frequency domain measures of HRV (5 min during paced and unpaced respiration conditions) were assessed in a U.S. community sample (N=1,033) of generally healthy men and women (age 30-54) of European ancestry. Each person was genotyped for the AKAP10 variant. As with previous work, the AKAP10 Val allele predicted greater resting HR (Paced p<.01; Unpaced p<.03) and diminished HRV (Paced ps <.05) suggesting that this variant may modulate the sensitivity of cardiac pacemaker cells to autonomic inputs, possibly conferring risk for arrhythmias and sudden cardiac death.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • A Kinase Anchor Proteins / genetics*
  • Adult
  • Alleles
  • Autonomic Nervous System / physiology
  • Cardiac Pacing, Artificial
  • DNA / genetics
  • Female
  • Gene Frequency
  • Genotype
  • Heart Rate / genetics*
  • Heart Rate / physiology*
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Regression Analysis
  • United States / epidemiology
  • White People


  • A Kinase Anchor Proteins
  • AKAP10 protein, human
  • DNA