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, Nicholas J. Timpson, Susan M. Ring, Frank C. Verhulst, Albert Hofman, Fernando Rivadeneira, Emma L. Meaburn, Thomas S. PricePhilip S. Dale, Demetris Pillas, Anneli Yliherva, Alina Rodriguez, Jean Golding, Vincent W V Jaddoe, Marjo Riitta Jarvelin, Robert Plomin, Craig E. Pennell, Henning Tiemeier, George Davey Smith, Laura Miller

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

47 Citations (Scopus)


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).

Original languageEnglish
Article numberA4831
Number of pages9
JournalNature Communications
Publication statusPublished - 16 Sep 2014


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