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Nature Communications:婴儿说话的遗传基础

摘要 : 英国布里斯托大学等处的研究人员在一项研究报告说,与早期语言获取相关的一个新基因已在婴儿身上被识别出。这些发现有可能导致我们对在语言发展和与语言相关的疾病(如“诵读困难症”)中所涉及的通道有更好认识。相关文章发表于2014年9月16日的《Nature Communications》杂志上。
Study design for the genome-wide screen of early expressive vocabulary.

儿童在大约10-15个月大时第一次开始说话,他们说话的词汇量和语法复杂性之后会迅速增加。以前对24个月大(这个时候的儿童一般采用双单词的组合来说话)的双胞胎所做的研究表明,这种获得的词汇是可遗传的。

Beate St Pourcain及同事利用来自年龄在15个月到30个月之间的超过1万名婴儿的语言能力数据来寻找词汇量得分与遗传差异之间的可能联系。他们在基因组中识别出一个特定区域,该区域与发育早期单个词语的获取显著相关,但在后期当双单词组合形成后就不是这样了。

这一新识别出的区域在一个被称为ROBO2的基因附近,该基因编码在神经过程中起关键作用的一种蛋白,位于3号染色体的一个特定部分内,后者以前曾被发现跟“诵读困难症”和与语言相关的疾病有关。

原文摘要:

Common variation near ​ROBO2 is associated with expressive vocabulary in infancy

Beate St Pourcain, Rolieke A.M. Cents, Andrew J.O. Whitehouse, Claire M.A. Haworth,Oliver S.P. Davis, Paul F. O’Reilly, Susan Roulstone, Yvonne Wren, Qi W. Ang, Fleur P. Velders, David M. Evans, John P. Kemp, Nicole M. Warrington, Laura Miller, Nicholas J. Timpson, Susan M. Ring, Frank C. Verhulst, Albert Hofman, Fernando Rivadeneira, Emma L. Meaburn et al.

Twin studies suggest that expressive vocabulary at ~24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the EArly Genetics and Lifecourse Epidemiology consortium, analysing an early (15–18 months, ‘one-word stage’, NTotal=8,889) and a later (24–30 months, ‘two-word stage’,NTotal=10,819) phase of language acquisition. For the early phase, one single-nucleotide polymorphism (rs7642482) at 3p12.3 near ​ROBO2, encoding a conserved axon-binding receptor, reaches the genome-wide significance level (P=1.3 × 10−8) in the combined sample. This association links language-related common genetic variation in the general population to a potential autism susceptibility locus and a linkage region for dyslexia, speech-sound disorder and reading. The contribution of common genetic influences is, although modest, supported by genome-wide complex trait analysis (meta-GCTA h215–18-months=0.13, meta-GCTA h224–30-months=0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h224-months=0.20).

来源: Nature中文 浏览次数:112

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