Common variation near ROBO2 is associated with expressive vocabulary in infancy

St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O'Reilly, Paul F., Roulstone, Susan, 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 and Smith, George Davey (2014) Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 1-9. doi:10.1038/ncomms5831

Author St Pourcain, Beate
Cents, Rolieke A. M.
Whitehouse, Andrew J. O.
Haworth, Claire M. A.
Davis, Oliver S. P.
O'Reilly, Paul F.
Roulstone, Susan
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
Title Common variation near ROBO2 is associated with expressive vocabulary in infancy
Formatted title
Common variation near ROBO2 is associated with expressive vocabulary in infancy
Journal name Nature Communications   Check publisher's open access policy
ISSN 2041-1723
Publication date 2014-09-16
Year available 2014
Sub-type Article (original research)
DOI 10.1038/ncomms5831
Open Access Status DOI
Volume 5
Start page 1
End page 9
Total pages 9
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2015
Language eng
Formatted 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).
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
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