Sinnreich R, Friedlander Y, Luria M H, Sapoznikov D, Kark J D
Department of Social Medicine, Hadassah University Hospital and Hebrew University-Hadassah School of Public Health, Ein-Kerem, Jerusalem, Israel.
Hum Genet. 1999 Dec;105(6):654-61. doi: 10.1007/s004399900189.
Heart rate variability (HRV) measures are associated with coronary heart disease incidence and mortality. Therefore insight into the genetic and environmental determinants of these measures may have clinical relevance. We assessed the role of genetic and environmental factors of time domain and frequency domain HRV indices. Participants were 451 kibbutz members, aged 15 and up, belonging to 80 families. HRV indices were calculated from Holter recordings measured over 5 min. Our data indicate that for the two time- and four frequency domain indices, a mixture of two normal distributions fit the data significantly better than a single normal distribution (P<0.05). We used complex segregation analysis to infer the modes of inheritance of these HRV measures. We found evidence for possible involvement of a recessive major gene in the inheritance of the root mean square of successive differences in RR intervals (RMSSD), which is predominantly vagally mediated. A putative major gene explains 28%-34% of the adjusted inter-individual variability. The SD, determined by a mixture of mechanisms, is influenced by environmental and polygenic effects, but not by a major gene. The findings regarding the heritability of the frequency domain indices were not conclusive. However, the involvement of genetic factors was not rejected. Additional studies in extended families are needed to confirm the involvement of major genes in the determination of the autonomic activity.
心率变异性(HRV)测量值与冠心病的发病率和死亡率相关。因此,深入了解这些测量值的遗传和环境决定因素可能具有临床意义。我们评估了时域和频域HRV指数的遗传和环境因素的作用。参与者为451名基布兹成员,年龄在15岁及以上,分属于80个家庭。HRV指数由5分钟的动态心电图记录计算得出。我们的数据表明,对于两个时域指数和四个频域指数,两个正态分布的混合比单个正态分布能更好地拟合数据(P<0.05)。我们使用复杂分离分析来推断这些HRV测量值的遗传模式。我们发现有证据表明,一个隐性主基因可能参与了RR间期连续差值均方根(RMSSD)的遗传,RMSSD主要由迷走神经介导。一个假定的主基因解释了28%-34%的个体间调整后变异性。由多种机制共同决定的标准差受环境和多基因效应的影响,但不受主基因影响。关于频域指数遗传力的研究结果尚无定论。然而,遗传因素的参与并未被排除。需要在大家庭中进行更多研究,以确认主基因在自主神经活动决定中的作用。