Katzenberg D, Young T, Finn L, Lin L, King D P, Takahashi J S, Mignot E
Department of Psychiatry and Behavioral Sciences, Stanford University Sleep Disorders Center, Palo Alto, Calif., USA.
Sleep. 1998 Sep 15;21(6):569-76. doi: 10.1093/sleep/21.6.569.
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 Home-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.
在一项基于人群的410名正常成年人随机样本中，对位于人类生物钟（CLOCK）基因3'侧翼区域的单核苷酸多态性进行了研究，以预测昼夜偏好。使用19项的霍恩-奥斯伯格问卷确定晨型-夜型偏好。携带两种CLOCK等位基因之一（3111C）的受试者，其霍恩-奥斯伯格平均得分显著较低。这些受试者的得分分布明显偏向夜型。得分差异与年龄、性别和种族遗传无关，因此人群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时段的偏好时间上有10至44分钟的显著延迟。我们认为，所鉴定的多态性或CLOCK基因及其调控元件内的另一个紧密连锁的多态性可能是导致这一发现的原因。
