Common variation near ROBO2 is associated with expressive vocabulary in infancy

• DOI: 10.1038/ncomms5831
• Publication Date: 2014-09-16T11:00:36Z
• Authors: Beate St Pourcain; Rolieke A.M. Cents; Andrew J.O. White...; Claire M.A. Haworth; Oliver S.P. Davis; Paul F. O’Reilly; Susan 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 Jarv...; Robert Plomin; Craig E. Pennell; Henning Tiemeier; George Davey Smith
• Keywords: Concordance; Genome-wide Association Study

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 in toddlers European descent from up to four EArly Genetics Lifecourse Epidemiology consortium, analysing an (15–18 months, ‘one-word stage’, N Total =8,889) later (24–30 ‘two-word =10,819) phase language acquisition. For phase, one single-nucleotide polymorphism (rs7642482) 3p12.3 near ROBO2 , encoding conserved axon-binding receptor, reaches significance level ( P =1.3 × 10 −8 ) combined sample. This association links language-related common genetic variation general population potential autism susceptibility locus linkage region for dyslexia, speech-sound disorder reading. The contribution influences is, although modest, supported by complex trait analysis (meta-GCTA h 2 15–18-months =0.13, meta-GCTA 24–30-months =0.14) concordance with additional twin (5,733 pairs descent, 24-months =0.20).