Title AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans.
Author Neumann, Serina A; Tingley, Whittemore G; Conklin, Bruce R; Shrader, Catherine J; Peet, Eloise; Muldoon, Matthew F; Jennings, J Richard; Ferrell, Robert E; Manuck, Stephen B
Journal Psychophysiology Publication Year/Month 2009-May
PMID 19496216 PMCID PMC2890278
Affiliation 1.Eastern Virginia Medical School, Norfolk, Virginia 23507, USA. neumansa@evms.edu.

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.

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