Paul F. O'Reilly
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
Authors
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
Abstract
© 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).
Citation
O'Reilly, P. F., St Pourcain, B., Cents, R. A., Whitehouse, A. J., Haworth, C. M., Davis, O. S., …Smith, G. D. (2014). Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5, https://doi.org/10.1038/ncomms5831
Journal Article Type | Article |
---|---|
Publication Date | Sep 16, 2014 |
Journal | Nature Communications |
Electronic ISSN | 2041-1723 |
Publisher | Nature Research (part of Springer Nature) |
Peer Reviewed | Peer Reviewed |
Volume | 5 |
DOI | https://doi.org/10.1038/ncomms5831 |
Keywords | common variation, ROBO2, vocabulary, infancy |
Public URL | https://uwe-repository.worktribe.com/output/813161 |
Publisher URL | http://dx.doi.org/10.1038/ncomms5831 |
Files
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