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From the Department of Psychology (S.A.N., S.B.M.), University of Pittsburgh, the Department of Human Genetics (E.C.L., R.E.F.), Graduate School of Public Health, University of Pittsburgh, and the Department of Psychiatry (J.R.J.), University of Pittsburgh Medical Center, Pittsburgh, PA.
Address correspondence and reprint requests to Serina A. Neumann, PhD, Behavioral Physiology Laboratory, 506 OEH, 4015 O’Hara Street, University of Pittsburgh, Pittsburgh, PA 15260. E-mail: neumannsa{at}msx.upmc.edu
Objective: The objective of this study was to determine whether interindividual variation in parasympathetic (cholinergic) and sympathetic (adrenergic) regulation of heart rate (as estimated by frequency components of heart rate variability [HRV]) may be accounted for, in part, by genetic variation in the choline transporter, a component of acetylcholine neurotransmission.
Methods: Resting HRV estimates of high- (HF) and low-frequency (LF) power and LF/HF ratio were determined from electrocardiogram recordings collected continuously over 5 minutes in 413 white individuals of European ancestry (49% men; aged 30–54 years [mean, 44 years]). Subjects were genotyped for a single nucleotide polymorphism (SNP) located in the 3' untranslated region of the choline transporter gene (CHT1). Frequencies of the alternate CHT1 alleles, labeled G and T, were 76% and 24%.
Results: Compared with GG homozygotes, participants having any T allele had greater HF power (p <.02), lower LF power (p <.02), and lower LF/HF ratios (p <.005). Relative to men, women had lower LF power (p <.001) and lower LF/HF ratios (p <.005).
Conclusions: These findings show that polymorphic variation in the CHT1 gene is associated significantly with interindividual variability in HRV indices related to parasympathetic (cholinergic) activity.
Key Words: acetylcholine • choline transport • choline transporter gene • heart rate variability
Abbreviations: ACh = acetylcholine; CHT1 = choline transporter gene; UTR = untranslated region; HRV = heart rate variability; HF = high frequency; LF = low frequency; nu = normalized units; ln = natural log; BMI = body mass index.
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