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基于人群队列的与语言相关特征相关的遗传关联的剖析。

Dissection of genetic associations with language-related traits in population-based cohorts.

机构信息

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK,

出版信息

J Neurodev Disord. 2011 Dec;3(4):365-73. doi: 10.1007/s11689-011-9091-6. Epub 2011 Sep 6.

Abstract

Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations.

摘要

近年来,语言障碍领域的研究进展使得特定语言损伤(SLI)和阅读障碍的候选基因得以确定。在包括基于人群的队列在内的独立样本中进行了复制研究,这些队列可以对大量相关认知测量进行特征描述。多种表型的出现不仅使我们能够识别最适合遗传关联复制的特征,还使我们能够改进相关的认知特征。此外,还可以跨多种表型测试多效性效应,这可以解释 SLI、阅读障碍和其他神经发育障碍之间广泛的共病现象。此类队列的全基因组基因型数据的可用性将促进这种分析,但必须考虑到一些重要问题,例如多重测试校正,因为预计这种关联的作用大小较小。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/363e/3261269/27199f40dc77/11689_2011_9091_Fig1_HTML.jpg

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