An observational study investigating the CRY1Δ11 variant associated with delayed sleep-wake patterns and circadian metabolic output.
An observational study investigating the CRY1Δ11 variant associated with delayed sleep-wake patterns and circadian metabolic output.
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DOI：
10.1038/s41598-021-99418-2
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发表时间：
2021-10-11
影响因子：
4.6
通讯作者：
Polymeropoulos MH
中科院分区：
文献类型：
--
作者：
Smieszek SP;Brzezynski JL;Kaden AR;Shinn JA;Wang J;Xiao C;Polymeropoulos C;Özçelik T;Polymeropoulos MH
我们进行了一项观察性研究，以收集关于睡眠-觉醒模式的信息，这些信息来自确认了隐花色素昼夜节律钟1（Cryptochrome circadian clock 1，CR 1）剪接变体（CR 1 Δ11 c.1657 + 3A > C）状态的参与者及其对照组（定义为野生型（WT）家族成员）。总共有67名参与者在土耳其入组并完成了这项研究，这些参与者是从至少有一名经确认的1991年成员的家庭名单中招募的。我们通过28天的每日睡眠后日记测量了所有参与者的睡眠-觉醒模式和代谢输出，特别是排便的时间和频率。睡眠日记测量了自我报告的上床时间，醒来时间，睡眠中点和持续睡眠（LPS）的潜伏期，并考虑了出于宗教目的的午睡和醒来。与WT组相比，WAR 1 Δ11变体组的觉醒时间和睡眠中点明显更晚，WAR 1 Δ11变体组的参与者LPS明显更高。所有睡眠夜晚的平均上床时间，在具有Δ 1 Δ11变异的参与者中晚于WT。此外，携带Δ 1 Δ11变异的参与者显著影响了代谢输出，通过比WT参与者更晚的排便来测量。这些结果表明，平均而言，具有所研究的剪接变体的个体在睡眠期和昼夜节律相关的代谢过程中经历明显的延迟。
We conducted an observational research study to collect information on sleep–wake patterns from participants with a confirmed status of the cryptochrome circadian clock 1 (CRY1) splicing variant, CRY1Δ11 c.1657 + 3A > C, and their controls, defined as wild-type (WT) family members. Altogether, 67 participants were enrolled and completed this study in Turkey, recruited from a list of families with at least one CRY1-confirmed member. We measured sleep–wake patterns and metabolic output, specifically time and frequency of bowel movements, for all participants by daily post-sleep diaries over 28 days. The sleep diary measured self-reported bed time, wake time, midpoint of sleep, and latency to persistent sleep (LPS), and accounted for naps and awakenings for religious purposes. Wake time and midpoint of sleep were significantly later in the CRY1Δ11 variant group versus WT, and LPS was significantly greater in participants in the CRY1Δ11 variant group. The mean bed time on all nights of sleep was later in participants with a CRY1Δ11 variant versus WT. Additionally, participants with a CRY1Δ11 variant had significantly affected metabolic outputs, measured by later bowel movements than WT participants. These results demonstrate that, on average, individuals with the studied splicing variant experience pronounced delays in sleep period and circadian-related metabolic processes.
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影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
DOI：
10.1073/pnas.1920653117
发表时间：
2020-11-10
影响因子：
11.1
作者：
Parico, Gian Carlo G.;Perez, Ivette;Partch, Carrie L.
通讯作者：
Partch, Carrie L.
影响因子：
15.9
作者：
Onat, O. Emre;Kars, M. Ece;Ozcelik, Tayfun
通讯作者：
Ozcelik, Tayfun
DOI：
10.1212/01.con.0000427209.21177.aa
发表时间：
2013-02-01
期刊：
Continuum (Minneapolis, Minn.)
影响因子：
--
作者：
Zee, Phyllis C;Attarian, Hrayr;Videnovic, Aleksandar
通讯作者：
Videnovic, Aleksandar
影响因子：
64.5
作者：
Patke A;Murphy PJ;Onat OE;Krieger AC;Özçelik T;Campbell SS;Young MW
通讯作者：
Young MW