Common variation near ROBO2 is associated with expressive vocabulary in infancy

St Pourcain, B. and Cents, R.A.M. and Whitehouse, A.J.O. and Haworth, C.M.A. and Davis, O.S.P. and O’Reilly, P.F. and Roulstone, S. and Wren, Y. and Ang, Q.W. and Velders, F.P. and Evans, D.M. and Kemp, John P. and Warrington, N.M. and Miller, L. and Timpson, N.J. and Ring, S.M. and Verhulst, F.C. and Hofman, A. and Rivadeneira, F. and Meaburn, Emma L. and Price, T.S. and Dale, P.S. and Pillas, D. and Yliherva, A. and Rodriguez, A. and Golding, J. and Jaddoe, V.W.V. and Jarvelin, M.-R. and Plomin, R. and Pennell, C.E. and Tiemeier, H. and Davey Smith, G. (2014) Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications 5 , p. 4831. ISSN 2041-1723.

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’, 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).

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