DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Expressive vocabulary in infants. The EFO term infant expressive language ability was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: infant expressive language ability

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

B St Pourcain, RA Cents, AJ Whitehouse, CM Haworth, OS Davis, PF O'Reilly, S Roulstone, Y Wren, QW Ang, FP Velders, DM Evans, JP Kemp, NM Warrington, L Miller, NJ Timpson, SM Ring, FC Verhulst, A Hofman, F Rivadeneira, EL Meaburn, TS Price, PS Dale, D Pillas, A Yliherva, A Rodriguez, J Golding, VW Jaddoe, MR Jarvelin, R Plomin, CE Pennell, H Tiemeier, G Davey Smith

TITLE:

Common variation near ROBO2 is associated with expressive vocabulary in infancy.

JOURNAL:

Nature communications Sep 2014, Vol 5, pp. 4831

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', N(Total) = 8,889) and a later (24-30 months, 'two-word stage', N(Total)=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 h(2)(15-18-months) = 0.13, meta-GCTA h(2)(24-30-months) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(2)(24-months) = 0.20). PUBMED: 25226531
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