Heart rate variability is associated with polymorphic variation in the choline transporter gene
Heart rate variability is associated with polymorphic variation in the choline transporter gene
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DOI：
10.1097/01.psy.0000155671.90861.c2
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发表时间：
2005-03-01
影响因子：
3.3
通讯作者：
Manuck, SB
中科院分区：
文献类型：
--
作者：
Neumann, SA;Lawrence, EC;Manuck, SB
目的：本研究的目的是确定副交感神经（胆碱能）和交感神经（肾上腺素能）心率调节（通过心率变异性 [HRV] 的频率成分估计）的个体差异是否可以部分归因于胆碱转运蛋白（乙酰胆碱神经传递的一个组成部分）的遗传变异。方法：根据 413 名欧洲血统白人（49% 为男性；年龄 30-54 岁[平均 44 岁]）在 5 分钟内连续收集的心电图记录，确定高频 (HE) 和低频 (LF) 功率以及 LF/HF 比率的静息 HRV 估计值。对受试者胆碱转运蛋白基因 (CHT1) 3' 非翻译区的单核苷酸多态性 (SNP) 进行基因分型。标记为 G 和 T 的替代 CHT1 等位基因的频率分别为 76% 和 24%。结果：与 GG 纯合子相比，具有任何 T 等位基因的参与者具有较高的 HE 功率 (p < .02)、较低的 LF 功率 (p < .02) 和较低的 LF/HF 比率 (p < .005)。相对于男性，女性的低频功率 (p < .001) 和低频/高频比 (p < .005) 较低。结论：这些研究结果表明，CHT1 基因的多态性变异与副交感神经（胆碱能）活动相关的 HRV 指数的个体间变异显着相关。
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- (HE) 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 HE 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.