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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.
Mittuniversitetet, Fakulteten för humanvetenskap, Avdelningen för psykologi. 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
Rekke forfattare: 322014 (engelsk)Inngår i: Nature Communications, E-ISSN 2041-1723, Vol. 5, artikkel-id A4831Artikkel i tidsskrift (Fagfellevurdert) 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).

sted, utgiver, år, opplag, sider
2014. Vol. 5, artikkel-id A4831
HSV kategori
Identifikatorer
URN: urn:nbn:se:miun:diva-23296DOI: 10.1038/ncomms5831ISI: 000342929300002Scopus ID: 2-s2.0-84910107464OAI: oai:DiVA.org:miun-23296DiVA, id: diva2:758864
Tilgjengelig fra: 2014-10-28 Laget: 2014-10-28 Sist oppdatert: 2023-03-28bibliografisk kontrollert

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