TY - JOUR
T1 - Common variation near ROBO2 is associated with expressive vocabulary in infancy
AU - St Pourcain, Beate
AU - Cents, Rolieke A.M.
AU - Whitehouse, Andrew J.O.
AU - Haworth, Claire M.A.
AU - Davis, Oliver S.P.
AU - O'Reilly, Paul F.
AU - Roulstone, Susan
AU - Wren, Yvonne
AU - Ang, Qi W.
AU - Velders, Fleur P.
AU - Evans, David M.
AU - Kemp, John P.
AU - Warrington, Nicole M.
AU - Miller, Laura
AU - Timpson, Nicholas J.
AU - Ring, Susan M.
AU - Verhulst, Frank C.
AU - Hofman, Albert
AU - Rivadeneira, Fernando
AU - Meaburn, Emma L.
AU - Price, Thomas S.
AU - Dale, Philip S.
AU - Pillas, Demetris
AU - Yliherva, Anneli
AU - Rodriguez, Alina
AU - Golding, Jean
AU - Jaddoe, Vincent W.V.
AU - Jarvelin, Marjo Riitta
AU - Plomin, Robert
AU - Pennell, Craig E.
AU - Tiemeier, Henning
AU - Smith, George Davey
N1 - Publisher Copyright:
© 2014 Macmillan Publishers Limited. All rights reserved.
PY - 2014/9/16
Y1 - 2014/9/16
N2 - 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).
AB - 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).
UR - https://www.scopus.com/pages/publications/84910107464
U2 - 10.1038/ncomms5831
DO - 10.1038/ncomms5831
M3 - Article
C2 - 25226531
AN - SCOPUS:84910107464
SN - 2041-1723
VL - 5
JO - Nature Communications
JF - Nature Communications
M1 - 4831
ER -