2014-09-16
Common variation near ROBO2 is associated with expressive vocabulary in infancy
Publication
Publication
Nature Communications , Volume 5
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 h15-18-months 2=0.13, meta-GCTA h24-30-months 2 =0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h24-months 2=0.20).
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| doi.org/10.1038/ncomms5831, hdl.handle.net/1765/85908 | |
| Nature Communications | |
| Organisation | Generation R Study Group |
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St Pourcain, B., Cents, R., Whitehouse, A., Haworth, C. M., Davis, O. S., O'Reilly, P., Roulstone, S., Wren, Y., Ang, Q. W., Velders, F., Evans, D. M., Kemp, J., Warrington, N., Miller, L., Timpson, N., Ring, S., Verhulst, F., Hofman, A., Rivadeneira Ramirez, F., … Smith, D. (2014). Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5.https://doi.org/10.1038/ncomms5831 |
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