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发育性语言障碍——与影响语言的其他障碍的遗传力及遗传相关性。

Developmental language disorder - heritability and genetic correlations with other disorders affecting language.

作者信息

Nudel Ron, Chrsitensen Rikke Vang, Kalnak Nelli, Lundberg Mischa, Schwinn Michael, Sørensen Erik, Mikkelsen Christina, Nissen Janna, Christoffersen Lea Arregui Nordahl, Kjerulff Bertram Dalskov, Hansen Thomas Folkmann, Burgdorf Kristoffer Sølvsten, Pedersen Ole Birger Vesterager, Erikstrup Christian, Gísladóttir Rósa S, Walters G Bragi, Stefánsson Hreinn, Ostrowski Sisse Rye, Werge Thomas

机构信息

CORE - Copenhagen Research Center for Mental Health, Mental Health Center Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark; Copenhagen Research Center for Biological and Precision Psychiatry, Mental Health Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark.

Department of Nordic Studies and Linguistics, University of Copenhagen, Copenhagen, Denmark.

出版信息

Psychiatry Res. 2024 Dec;342:116212. doi: 10.1016/j.psychres.2024.116212. Epub 2024 Sep 21.

Abstract

Developmental language disorder (DLD) is a neurodevelopmental disorder primarily affecting language in the absence of a known biomedical condition, which may have a large impact on a person's life and mental health. Family-based studies indicate a strong genetic component in DLD, but genetic studies of DLD are scarce. In this study we estimated the heritability of DLD and its genetic correlations with related disorders and traits in sample of >25,000 individuals from the Danish Blood Donor Study for whom we had both genotype data and questionnaire data on language disorder and language support. We estimated SNP-based heritabilities for DLD and genetic correlations with disorders which may involve spoken language deficits and traits related to spoken language. We found significant heritability estimates for DLD ranging from ∼27 % to ∼52 %, depending on the method used. We found no significant evidence for genetic correlation with the investigated disorders or traits, although the strongest effect was observed for a negative genetic correlation between DLD and nonword repetition ability. To our knowledge, this study reports the first significant heritability estimate for DLD from molecular genetic data.

摘要

发育性语言障碍(DLD)是一种神经发育障碍,主要在没有已知生物医学病症的情况下影响语言,这可能对一个人的生活和心理健康产生重大影响。基于家庭的研究表明DLD有很强的遗传成分,但对DLD的基因研究却很少。在本研究中,我们在来自丹麦献血者研究的25000多名个体样本中估计了DLD的遗传力及其与相关疾病和性状的遗传相关性,我们拥有这些个体的基因型数据以及关于语言障碍和语言支持的问卷数据。我们估计了基于单核苷酸多态性(SNP)的DLD遗传力以及与可能涉及口语缺陷的疾病和与口语相关的性状的遗传相关性。根据所使用的方法,我们发现DLD的显著遗传力估计值在27%至52%之间。我们没有发现与所研究的疾病或性状存在遗传相关性的显著证据,尽管在DLD与非词重复能力之间观察到最强的负遗传相关性。据我们所知这项研究报告了来自分子遗传学数据的DLD的首个显著遗传力估计值。

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