A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults.
A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults.
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DOI：
10.1097/00041444-199906000-00011
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发表时间：
1999-06
影响因子：
0.9
通讯作者：
D. Katzenberg;T. Young;L. Lin;L. Finn;E. Mignot
中科院分区：
文献类型：
--
作者：
D. Katzenberg;T. Young;L. Lin;L. Finn;E. Mignot
哺乳动物的昼夜节律最近已被证明是在基因水平上的转录-翻译反馈环的调节。在哺乳动物中已经分离出Clock、Bmal-1、Timeless和三种Period蛋白等关键分子组分。在这项研究中，我们假设这些基因之一--HPER 1--的多态性可能与不同的早晨-晚上倾向有关。样本包括463名参加威斯康星州睡眠队列研究的中年参与者。使用Horne-Ostberg问卷评价昼夜偏好。通过比较现有的序列数据，在HPER 1 c-DNA序列中鉴定了2548位的A至G同义取代。这种多态性进行了验证，测序和分型使用已建立的寡核苷酸分型技术在所有科目，产生等位基因频率为0.85和0.15的HPER 1 2548 G和HPER 1 2548 A，分别。然后比较基因型组之间的早晨-晚上得分。与之前使用Clock多态性发表的数据相比，HPER 1组之间的评分没有显著差异。这些结果表明，多态性水平的HPER 1并没有显着调节晨晚倾向的一般人群。
Mammalian circadian rhythmicity has recently been shown to be regulated at the genetic level by transcription--translation feed-back loops. Key molecular components such as Clock, Bmal-1, Timeless and three Period proteins have been isolated in mammals. In this study, we hypothesized that polymorphisms at the level of one of these genes--HPER1--could be associated with differential morningness-eveningness tendencies. The sample comprised 463 middle-aged participants enrolled in the Wisconsin Sleep Cohort Study. Diurnal preferences were evaluated using the Horne-Ostberg questionnaire. An A to G synonymous substitution at position 2548 was identified in HPER1 c-DNA sequence by comparing available sequence data. This polymorphism was verified by sequencing and typed using established oligotyping techniques in all subjects, yielding allele frequencies of 0.85 and 0.15 for HPER1 2548G and HPER1 2548A, respectively. Morningness-eveningness scores were then compared between genotype groups. In contrast to data previously published using a Clock polymorphism, scores did not differ significantly across HPER1 groups. These results suggest that polymorphism at the level of HPER1 does not significantly modulate morningness-eveningness tendencies in the general population.