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Common variation near ROBO2 is associated with expressive vocabulary in infancy

O'Reilly, Paul F.; St Pourcain, Beate; Cents, Rolieke A.M.; Whitehouse, Andrew J.O.; Haworth, Claire M.A.; Davis, Oliver S.P.; Roulstone, Sue; Wren, Yvonne; Ang, Qi W.; Velders, Fleur P.; Evans, David M.; Kemp, John P.; Warrington, Nicole M.; Miller, Laura; Timpson, Nicholas J.; Ring, Susan M.; Verhulst, Frank C.; Hofman, Albert; Rivadeneira, Fernando; Meaburn, Emma L.; Price, Thomas S.; Dale, Philip S.; Pillas, Demetris; Yliherva, Anneli; Rodriguez, Alina; Golding, Jean; Jaddoe, Vincent W.V.; Jarvelin, Marjo Riitta; Plomin, Robert; Pennell, Craig E.; Tiemeier, Henning; Smith, George Davey

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Paul F. O'Reilly

Beate St Pourcain

Rolieke A.M. Cents

Andrew J.O. Whitehouse

Claire M.A. Haworth

Oliver S.P. Davis

Sue Roulstone

Yvonne Wren

Qi W. Ang

Fleur P. Velders

David M. Evans

John P. Kemp

Nicole M. Warrington

Laura Miller

Nicholas J. Timpson

Susan M. Ring

Frank C. Verhulst

Albert Hofman

Fernando Rivadeneira

Emma L. Meaburn

Thomas S. Price

Philip 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


© 2014 Macmillan Publishers Limited. All rights reserved. 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-months2=0.13, meta-GCTA h24-30-months2 =0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h24-months2=0.20).

Journal Article Type Article
Publication Date Sep 16, 2014
Deposit Date Dec 15, 2014
Publicly Available Date Apr 4, 2016
Journal Nature Communications
Electronic ISSN 2041-1723
Publisher Nature Research (part of Springer Nature)
Peer Reviewed Peer Reviewed
Volume 5
Keywords common variation, ROBO2, vocabulary, infancy
Public URL
Publisher URL
Contract Date Apr 4, 2016


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