Heart rate variability is associated with polymorphic variation in the choline transporter gene

• Published in: Psychosomatic medicine Vol. 67; no. 2; p. 168
• Main Authors: Neumann, Serina A, Lawrence, Elizabeth C, Jennings, J Richard, Ferrell, Robert E, Manuck, Stephen B
• Format: Journal Article
• Language: English
• Published: United States 01.03.2005
• Subjects: Acetylcholine - physiology; Adult; Electrocardiography - statistics & numerical data; European Continental Ancestry Group - legislation & jurisprudence; Female; Genetic Variation; Heart Rate - genetics; Heart Rate - physiology; Humans; Male; Membrane Transport Proteins - genetics; Middle Aged; Models, Genetic; Parasympathetic Nervous System - physiology; Polymorphism, Single Nucleotide - genetics; Synaptic Transmission - physiology
• ISSN: 1534-7796
• DOI: 10.1097/01.psy.0000155671.90861.c2

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. 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%. 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). These findings show that polymorphic variation in the CHT1 gene is associated significantly with interindividual variability in HRV indices related to parasympathetic (cholinergic) activity.