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Open Access Short report

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

Teresa Tavassoli12*, Bonnie Auyeung1, Laura C Murphy1, Simon Baron-Cohen1 and Bhismadev Chakrabarti13

Author Affiliations

1 Department of Psychiatry, Autism Research Centre, University of Cambridge, Cambridge, UK

2 Current address: Seaver Autism Center, Mount Sinai, NY, USA

3 Centre for Integrative Neuroscience and Neurodynamics, School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK

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Molecular Autism 2012, 3:6  doi:10.1186/2040-2392-3-6

Published: 6 July 2012

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 <0.05). Behaviourally measured tactile sensitivity was nominally associated with 10 SNPs (three after Bonferroni correction).

Conclusions

This is the first human study to show an association between GABRB3 variation and tactile sensitivity. This provides support for the evidence from animal models implicating the role of GABRB3 variation in the atypical sensory sensitivity in autism spectrum conditions. Future research is underway to directly test this association in cases of autism spectrum conditions.

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