Nat Commun:ROBO2基因——婴儿说话的基础
Nature Communications于9月16日在线发表的一项研究报告:一个与早期语言获取相关的新基因ROBO2已在婴儿身上被识别出。这项发现对人类在语言发展和探索与语言相关的疾病(如“诵读困难症”)中所涉及的通道有更好认识。



最近,Beate St Pourcain与同事利用年龄在15个月到30个月之间的1万多名婴儿的语言能力数据来探究词汇量得分与遗传差异之间的可能联系。



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

    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).

    展开 收起
发表评论 我在frontend\modules\comment\widgets\views\文件夹下面 test