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Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children

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Author(s): Tavassoli Teresa | Auyeung Bonnie | Murphy Laura C | Baron-Cohen Simon | Chakrabarti Bhismadev

Journal: Molecular Autism
ISSN 2040-2392

Volume: 3;
Issue: 1;
Start page: 6;
Date: 2012;
Original page

Keywords: Autism spectrum conditions | autistic traits | GABA | sensory profile | tactile sensitivity

ABSTRACT
Abstract Background Autism spectrum conditions have a strong genetic component. Atypical sensory sensitivities are one of the core but neglected features of autism spectrum conditions. GABRB3 is a well-characterised candidate gene for autism spectrum conditions. In mice, heterozygous Gabrb3 deletion is associated with increased tactile sensitivity. However, no study has examined if tactile sensitivity is associated with GABRB3 genetic variation in humans. To test this, we conducted two pilot genetic association studies in the general population, analysing two phenotypic measures of tactile sensitivity (a parent-report and a behavioural measure) for association with 43 SNPs in GABRB3. Findings Across both tactile sensitivity measures, three SNPs (rs11636966, rs8023959 and rs2162241) were nominally associated with both phenotypes, providing a measure of internal validation. Parent-report scores were nominally associated with six SNPs (P
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