MRC Unit for Lifelong Health and Ageing, Institute of Cardiovascular Science, University College London, 1-19 Torrington Place, WC1E 7HB, UK.
Sleep Med Rev. 2021 Apr;56:101413. doi: 10.1016/j.smrv.2020.101413. Epub 2020 Nov 29.
A modest body of research exists in the area of human sleep genetics, which suggests that specific sleep phenotypes are, like many other complex traits, somewhat heritable. Until 2007 research into sleep genetics relied solely on twin studies, but in the last 13 years with the advent of huge biobanks and very large-scale genome-wide association studies, the field of molecular sleep genetics has seen important advances. To date, the majority have focused on self-reported sleep duration, but in recent years genome-wide association studies of objectively-measured sleep have emerged. These genetic studies have discovered multiple common genetic variants and as such, have provided insight into potential biological pathways, causal relationships between sleep duration and important disease outcomes using Mendelian randomisation. They have also shown that the heritability of these traits may not be as high as previously estimated. This article is the first to provide a detailed review of these recent advances in the genetic epidemiology of sleep duration. Studies were identified using both the GWAS Catalog and PubMed for completeness. Focus is on the genome-wide association studies published to date, including whether and how they have elucidated important biology and advanced knowledge in the area of sleep and health.
在人类睡眠遗传学领域存在着一定数量的研究,这些研究表明,特定的睡眠表型与许多其他复杂特征一样,具有一定的遗传性。直到 2007 年,睡眠遗传学的研究仅依赖于双胞胎研究,但在过去的 13 年中,随着大型生物库和大规模全基因组关联研究的出现,分子睡眠遗传学领域取得了重要进展。迄今为止,大多数研究都集中在自我报告的睡眠时间上,但近年来,对客观测量的睡眠进行的全基因组关联研究已经出现。这些遗传研究发现了多个常见的遗传变异体,从而为潜在的生物学途径提供了深入的了解,使用孟德尔随机化研究了睡眠时间与重要疾病结果之间的因果关系。它们还表明,这些特征的遗传性可能不像以前估计的那么高。本文是第一篇详细回顾睡眠持续时间遗传流行病学中这些最新进展的文章。为了完整性,使用 GWAS 目录和 PubMed 同时进行了研究的识别。重点是迄今为止发表的全基因组关联研究,包括它们是否以及如何阐明了睡眠和健康领域的重要生物学和先进知识。