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全基因组关联研究确定了与利手性相关的 48 个常见遗传变异。

Genome-wide association study identifies 48 common genetic variants associated with handedness.

机构信息

The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Queensland, Australia.

23andMe, Inc., Sunnyvale, CA, USA.

出版信息

Nat Hum Behav. 2021 Jan;5(1):59-70. doi: 10.1038/s41562-020-00956-y. Epub 2020 Sep 28.

Abstract

Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (r = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.

摘要

利手性已被广泛研究,因为它与语言有关,并且左撇子在一些神经发育障碍中过度出现。我们使用来自英国生物银行、23andMe 和国际利手性联合会的数据,对利手性(N=1,766,671)进行了全基因组关联荟萃分析。我们发现 41 个与左利手相关的位点(P<5×10)和 7 个与双手灵巧性相关的位点。组织富集分析表明中枢神经系统在手性的发病机制中起作用。包括微管调节和大脑形态的途径也被强调。我们发现左利手与精神神经特质(包括精神分裂症和双相情感障碍)之间存在提示性的正遗传相关性。此外,左利手和双手灵巧性之间的遗传相关性较低(r=0.26),这意味着这些特质主要受不同遗传机制的影响。我们的研究结果表明,利手性是高度多基因的,导致左利手的遗传变异可能是某些精神障碍关联的部分原因。

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本文引用的文献

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Human handedness: A meta-analysis.人类用手习惯:一项荟萃分析。
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The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.微管细胞骨架在神经发育障碍中的作用。
Front Cell Neurosci. 2018 Jun 14;12:165. doi: 10.3389/fncel.2018.00165. eCollection 2018.
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