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基于加速度计的睡眠测量的遗传研究为人类睡眠行为提供了新的见解。

Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.

机构信息

Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, EX2 5DW, UK.

Netherlands eScience Center, Amsterdam, 1098 XG, The Netherlands.

出版信息

Nat Commun. 2019 Apr 5;10(1):1585. doi: 10.1038/s41467-019-09576-1.

Abstract

Sleep is an essential human function but its regulation is poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing sleep quality, quantity and timing, and validate our findings in 5,819 individuals. We identify 47 genetic associations at P < 5 × 10, of which 20 reach a stricter threshold of P < 8 × 10. These include 26 novel associations with measures of sleep quality and 10 with nocturnal sleep duration. The majority of identified variants associate with a single sleep trait, except for variants previously associated with restless legs syndrome. For sleep duration we identify a missense variant (p.Tyr727Cys) in PDE11A as the likely causal variant. As a group, sleep quality loci are enriched for serotonin processing genes. Although accelerometer-derived measures of sleep are imperfect and may be affected by restless legs syndrome, these findings provide new biological insights into sleep compared to previous efforts based on self-report sleep measures.

摘要

睡眠是人类的基本功能之一,但它的调节机制仍未被充分理解。我们使用来自 85670 名英国生物银行参与者的加速计数据,对 8 种衍生的睡眠特征进行了全基因组关联研究,这些特征代表了睡眠质量、数量和时间,并在 5819 个人中验证了我们的发现。我们在 P<5×10 处鉴定出 47 个遗传关联,其中 20 个达到更严格的 P<8×10 的阈值。这些关联包括 26 个与睡眠质量测量相关的新关联和 10 个与夜间睡眠时间相关的关联。除了先前与不安腿综合征相关的变异外,大多数已识别的变异与单一睡眠特征相关。对于睡眠时间,我们在 PDE11A 中鉴定出一个错义变异(p.Tyr727Cys),它可能是因果变异。作为一个整体,睡眠质量位点富集了 5-羟色胺处理基因。尽管基于加速计的睡眠测量并不完美,并且可能受到不安腿综合征的影响,但与之前基于自我报告睡眠测量的研究相比,这些发现为睡眠提供了新的生物学见解。

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