A CLOCK polymorphism associated with human diurnal preference
A CLOCK polymorphism associated with human diurnal preference
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DOI：
10.1093/sleep/21.6.569
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发表时间：
1998-09-15
期刊：
影响因子：
5.6
通讯作者：
Mignot, E
中科院分区：
文献类型：
--
作者：
Katzenberg, D;Young, T;Mignot, E
在410名正常成年人的随机样本中，研究了位于人类CLOCK基因3'侧翼区的单核苷酸多态性作为昼夜偏好的预测因子。使用19项Horne-Ostberg问卷确定早晨-晚上偏好。携带两个CLOCK等位基因之一3111 C的受试者平均Horne-Ostberg评分显著较低。这些受试者的得分分布明显向晚上移动。得分差异与年龄、性别和种族传统无关，因此，人口分层效应不太可能解释这种差异。这些受试者在活动或睡眠发作的首选时间上有10- 44分钟的延迟。我们认为，确定的多态性或其他紧密连锁的多态性内的时钟基因或其调控元件可能是负责的发现。
A single nucleotide polymorphism located in the 3' flanking region of the human CLOCK gene was investigated as a predictor of diurnal preference in a population-based random sample of 410 normal adults. Morningness-eveningness preferences were determined using the 19-item Horne-Ostberg questionnaire. Subjects carrying one of the two CLOCK alleles, 3111C, had a significantly lower mean Horne-Ostberg score. The distribution of scores was clearly shifted toward eveningness for these subjects. The score difference was independent of age, sex and ethnic heritage, thus making population stratification effects unlikely to explain this difference. These subjects had a substantial 10- to 44-minute delay in preferred timing for activity or sleep episodes. We suggest that the identified polymorphism or another tightly linked polymorphism within the CLOCK gene or its regulatory elements may be responsible for the finding.