Tactile Sensitivity Phenotypes Associated with Variation in the Autism Candidate Gene GABRB3 in Typical Developing Children

Thursday, May 17, 2012
Sheraton Hall (Sheraton Centre Toronto)
10:00 AM
T. Tavassoli1, B. Auyeung1, L. Murphy2, S. Baron-Cohen1 and B. Chakrabarti3, (1)Autism Research Centre, University of Cambridge, Cambridge, United Kingdom, (2)ARC, cambridge, United Kingdom, (3)Centre for Integrative Neuroscience and Neurodynamics, University of Reading, Reading, United Kingdom
Background:  Autism Spectrum Conditions (ASC) and autistic traits are highly heritable. Atypical sensory sensitivities are one of the core features of ASC. However little is known about mechanisms underlying normative variability in sensory sensitivity. A recently developed mouse model of autism with a heterozygous gabrb3 deletion showed increased tactile responsiveness in male mice (DeLorey et al., 2010). No study in humans has examined the role of variability of the GABRB3 gene on tactile sensitivity. Therefore we conducted two genetic association studies of tactile perception in typically developing children.

Objectives: The aim was to test an association between tactile sensitivity phenotypes (self-report and experimental measurement) and variation in the autism candidate gene GABRB3.

Methods: Tactile sensitivity was measured using a sensory questionnaire, the Short Sensory Profile (SSP) (n=87), and experimentally using a touch assessment test (Semmes Weinstein Von Frey Aesthesiometer for Touch Assessment test) (n=39).

Results: Experimentally measured tactile sensitivity thresholds were nominally associated at p<.05 to 13 SNPs from GABRB3. SSP tactile scores were nominally associated with 6 SNPs.

Conclusions: These are the first human studies to show an association between GABRB3 and tactile sensitivity measured using a sensory questionnaire and experimentally measured tactile thresholds. This association should be tested in cases of ASC towards a better understanding of the underlying causes of their sensory issues.

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