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支持EKN1作为15号染色体长臂21区阅读障碍的易感基因座。

Support for EKN1 as the susceptibility locus for dyslexia on 15q21.

作者信息

Wigg K G, Couto J M, Feng Y, Anderson B, Cate-Carter T D, Macciardi F, Tannock R, Lovett M W, Humphries T W, Barr C L

机构信息

Department of Psychiatry, Cell and Molecular Division, The Toronto Western Hospital, University Health Network, Toronto, Ontario M5T 2S8, Canada.

出版信息

Mol Psychiatry. 2004 Dec;9(12):1111-21. doi: 10.1038/sj.mp.4001543.

Abstract

Dyslexia has been linked to a number of chromosomal regions including 15q. Recently a gene, EKN1, with unknown function in the linked region, was identified via a translocation breakpoint. This gene was further supported as a susceptibility locus by association studies in a Finnish sample. We investigated the possibility of this locus as a susceptibility gene contributing to dyslexia, analyzed as a categorical trait, and analyzed key reading phenotypes as quantitative traits using six polymorphisms including the two previously reported to be associated with dyslexia. In our sample of 148 families identified through a proband with reading difficulties, we found significant evidence for an association to dyslexia analyzed as a categorical trait and found evidence of association to the reading and related processes of phonological awareness, word identification, decoding, rapid automatized naming, language ability, and verbal short-term memory. However, association was observed with different alleles and haplotypes than those reported to be associated in a Finnish sample. These findings provide support for EKN1 as a risk locus for dyslexia and as contributing to reading component processes and reading-related abilities. Based on these findings, further studies of this gene in independent samples are now required to determine the relationship of this gene to dyslexia.

摘要

诵读困难症与包括15q在内的多个染色体区域有关。最近,通过一个易位断点鉴定出了一个在相关区域中功能未知的基因EKN1。在芬兰样本中进行的关联研究进一步支持该基因是一个易感位点。我们研究了该位点作为导致诵读困难症的易感基因的可能性,将诵读困难症作为分类性状进行分析,并使用六个多态性位点(包括之前报道的两个与诵读困难症相关的位点)将关键阅读表型作为数量性状进行分析。在我们通过有阅读困难的先证者确定的148个家庭样本中,我们发现了该基因与作为分类性状分析的诵读困难症之间存在显著关联的有力证据,并且发现了该基因与语音意识、单词识别、解码、快速自动命名、语言能力和言语短期记忆等阅读及相关过程之间存在关联的证据。然而,观察到的关联等位基因和单倍型与芬兰样本中报道的不同。这些发现支持EKN1作为诵读困难症的一个风险位点,并对阅读组成过程和阅读相关能力有影响。基于这些发现,现在需要在独立样本中对该基因进行进一步研究,以确定该基因与诵读困难症的关系。

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