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Common variation near ROBO2 is associated with expressive vocabulary in infancy

In this paper 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...

Authors:
St Pourcain B, Cents RA, Whitehouse AJ, Haworth CM, Davis OS, O'Reilly PF, et al.

Authors notes:
Nature Communications. 2014;5:4831

Keywords:
Vocabulary, language development, language acquisition, autism, genetic influences, EAGLE consortium

Abstract:
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', N(Total) = 8,889) and a later (24-30 months, 'two-word stage', N(Total)=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 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 and in concordance with additional twin analysis.