Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children Teresa Tavassoli1,2*, Bonnie Auyeung1 , Laura C Murphy1 , Simon Baron-Cohen1 and Bhismadev Chakrabarti1,3 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 0.1 in a Caucasian population, and ensuring the maximum gene coverage through linkage disequilibrium [20]. A total of 43 SNPs were chosen, to provide maximal coverage of the gene. DNA was extracted from mouth swabs, which were then anonymized and genotyped using standard PCR-based assays (TaqMan SNP genotyping assays; Applied Biosystems Inc., Foster City, CA, USA). The genotyping call rate was 99.45%. No SNP deviated significantly from HardyWeinberg equilibrium (P
Posted on: Thu, 04 Jul 2013 07:48:55 +0000
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