Department of Medicine and Center for Sleep and Circadian Neurobiology, University of Pennsylvania, Philadelphia, PA, USA.
Sleep. 2012 Sep 1;35(9):1223-33. doi: 10.5665/sleep.2074.
To determine if the large and highly reproducible interindividual differences in rates of performance deficit accumulation during sleep deprivation, as determined by the number of lapses on a sustained reaction time test, the Psychomotor Vigilance Task (PVT), arise from a heritable trait.
Prospective, observational cohort study.
Academic medical center.
There were 59 monozygotic (mean age 29.2 ± 6.8 [SD] yr; 15 male and 44 female pairs) and 41 dizygotic (mean age 26.6 ± 7.6 yr; 15 male and 26 female pairs) same-sex twin pairs with a normal polysomnogram.
Thirty-eight hr of monitored, continuous sleep deprivation.
Patients performed the 10-min PVT every 2 hr during the sleep deprivation protocol. The primary outcome was change from baseline in square root transformed total lapses (response time ≥ 500 ms) per trial. Patient-specific linear rates of performance deficit accumulation were separated from circadian effects using multiple linear regression. Using the classic approach to assess heritability, the intraclass correlation coefficients for accumulating deficits resulted in a broad sense heritability (h(2)) estimate of 0.834. The mean within-pair and among-pair heritability estimates determined by analysis of variance-based methods was 0.715. When variance components of mixed-effect multilevel models were estimated by maximum likelihood estimation and used to determine the proportions of phenotypic variance explained by genetic and nongenetic factors, 51.1% (standard error = 8.4%, P < 0.0001) of twin variance was attributed to combined additive and dominance genetic effects.
Genetic factors explain a large fraction of interindividual variance among rates of performance deficit accumulations on PVT during sleep deprivation.
通过测定在持续反应时测试（Psychomotor Vigilance Task，PVT）中失误次数（漏报）来确定睡眠剥夺期间，个体间表现缺陷累积率的巨大且高度可重现的差异是否源于遗传特征。
前瞻性观察队列研究。
学术医疗中心。
共有 59 对同卵（平均年龄 29.2 ± 6.8 [SD] 岁；男性 15 对，女性 44 对）和 41 对异卵（平均年龄 26.6 ± 7.6 岁；男性 15 对，女性 26 对）同性别双胞胎，所有双胞胎均具有正常多导睡眠图。
监测和连续 38 小时的睡眠剥夺。
在睡眠剥夺方案期间，患者每 2 小时进行 10 分钟的 PVT。主要结果是每个试验中从基线变化的平方根转换的总漏报（反应时间≥500ms）数。使用多元线性回归法将患者特异性的表现缺陷累积线性率与昼夜节律影响分开。使用经典的评估遗传力方法，累积缺陷的组内相关系数得出了广义遗传力（h（2））估计值为 0.834。方差分析方法确定的个体内和个体间遗传力估计值为 0.715。当混合效应多层次模型的方差成分通过最大似然估计进行估计，并用于确定遗传和非遗传因素对表型方差的解释比例时，51.1%（标准误差=8.4%，P<0.0001）的双胞胎方差归因于综合加性和显性遗传效应。
遗传因素解释了睡眠剥夺期间 PVT 上表现缺陷累积率个体间差异的很大一部分。
