Common variation near ROBO2 is associated with expressive vocabulary in infancy

B St Pourcain, RAM Cents, AJO Whitehouse, CMA Haworth, OSP Davis, PF O'Reilly, S Roulstone, Y Wren, QW Ang, FP Velders, DM Evans, JP Kemp, NM Warrington, L Miller, NJ Timpson, SM Ring, Frank Verhulst, Bert Hofman, Fernando Rivadeneira, EL MeaburnTS Price, PS Dale, D Pillas, A Yliherva, A Rodriguez, J Golding, Vincent Jaddoe, MR Jarvelin, R Plomin, CE Pennell, Henning Tiemeier, GD Smith

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Twin studies suggest that expressive vocabulary at similar to 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 (P = 1.3 x 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 h(5-18-months)(2) = 0.13, meta-GCTA h(24-30-months)(2) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(24-months)(2) = 0.20).
Original languageUndefined/Unknown
JournalNature Communications
Publication statusPublished - 2014

Research programs

  • EMC MM-04-54-08-A
  • EMC NIHES-01-64-02
  • EMC NIHES-04-55-01

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