The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample
The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample
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DOI：
10.1002/ajmg.b.30110
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发表时间：
2005-02-05
影响因子：
2.8
通讯作者：
Mishima, Y
中科院分区：
文献类型：
--
作者：
Mishima, K;Tozawa, T;Mishima, Y
睡眠时间受昼夜节律系统的影响。人类对“早睡晚睡”（ME）的偏好受到自由运行期的影响，而自由运行期是由生物钟相关基因决定的。在这项研究中，我们调查了421名日本人hClock (Homo sapiens Clock homolog) 3'-侧翼区域3111T/C多态性与ME偏好的关系。Horne-Ostberg ME问卷（MEQ）得分呈正态分布，平均得分为51.2 +/- 1.4（范围25-73），得分与睡眠开始时间（r=0.541, P < 0.001）和清醒时间（r= 0.513, P < 0.001）呈正相关。3111C/C受试者（n = 12）的MEQ得分显著低于3111T/C受试者（n = 106, P < 0.001）或311IT/T受试者（n = 303, P < 0.001），表明3111C/C纯合子具有更强的趋同性偏好。与携带3111T等位基因的受试者相比，该组还表现出明显的睡眠开始延迟（P < 0.001）、睡眠时间缩短（P < 0.001）和白天嗜睡（P < 0.001）。在3111C/T和3111T/T基因型之间，这些参数均无显著差异。3111T/C多态性对白种人ME偏好的影响仍存在争议。目前在日本人群样本中的研究结果表明，hClock的3111C/C等位基因与晚上偏好之间存在显著关联，而日本人群的分层效应风险相对较低。(C) 2005 Wiley-Liss, Inc。
Sleep timing is influenced by the circadian system. Morningness-eveningness (ME) preference in humans is affected by the free-running period, which is determined by circadian clock-relevant genes. In this study, we investigated association between the 3111T/C polymorphism in the 3'-flanking region of hClock (Homo sapiens Clock homolog) and ME preference in 421 Japanese subjects. The Horne-Ostberg ME questionnaire (MEQ) scores showed normal distribution, with mean score of 51.2 +/- 1.4 (range, 25-73), and scores were positively correlated with sleep onset time (r=0.541, P < 0.001) and wake time (r = 0.513, P < 0.001). MEQ scores were significantly lower in subjects with 3111C/C (n = 12) than in subjects with 3111T/C (n = 106, P < 0.001) or 311IT/T (n = 303, P < 0.001), suggesting a stronger eveningness preference in 3111C/C homozygotes. This group also showed significantly delayed sleep onset (P < 0.001), shorter sleep time (P < 0.001), and greater daytime sleepiness (P < 0.001) in comparison to parameters in the subjects with the 3111T allele. There was no significant difference in any of these parameters between the 3111C/T and 3111T/T genotypes. The influence of the 3111T/C polymorphism on ME preferences in Caucasian populations remains controversial. The present findings in a Japanese population sample, which should have a relatively low risk of population stratification effects, suggest the significance of the association of the 3111C/C allele of hClock with evening preference. (C) 2005 Wiley-Liss, Inc.