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Common variation near ​ROBO2 is associated with expressive vocabulary in infancy
Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England.
Mid Sweden University, Faculty of Human Sciences, Department of Psychology. Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Ctr Environm & Hlth, Dept Epidemiol & Biostat,MRC,Publ Hlth England, London W2 1PG, England.ORCID iD: 0000-0003-1209-8802
Number of Authors: 32
2014 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 5, A4831Article in journal (Refereed) Published
Abstract [en]

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).

Place, publisher, year, edition, pages
2014. Vol. 5, A4831
National Category
URN: urn:nbn:se:miun:diva-23296DOI: 10.1038/ncomms5831ISI: 000342929300002ScopusID: 2-s2.0-84910107464OAI: diva2:758864
Available from: 2014-10-28 Created: 2014-10-28 Last updated: 2016-10-24Bibliographically approved

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