| Summary: | <p>Abstract</p> <p>Background</p> <p>Autism spectrum conditions have a strong genetic component. Atypical sensory sensitivities are one of the core but neglected features of autism spectrum conditions. <it>GABRB3</it> is a well-characterised candidate gene for autism spectrum conditions. In mice, heterozygous <it>Gabrb3</it> deletion is associated with increased tactile sensitivity. However, no study has examined if tactile sensitivity is associated with <it>GABRB3</it> 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 <it>GABRB3</it>.</p> <p>Findings</p> <p>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 (<it>P</it> <0.05). Behaviourally measured tactile sensitivity was nominally associated with 10 SNPs (three after Bonferroni correction).</p> <p>Conclusions</p> <p>This is the first human study to show an association between <it>GABRB3</it> variation and tactile sensitivity. This provides support for the evidence from animal models implicating the role of <it>GABRB3</it> 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.</p>
|
|---|
