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

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 asso...

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Autores principales: Tavassoli, Teresa, Auyeung, Bonnie, Murphy, Laura C, Baron-Cohen, Simon, Chakrabarti, Bhismadev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434022/
https://www.ncbi.nlm.nih.gov/pubmed/22769427
http://dx.doi.org/10.1186/2040-2392-3-6
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author Tavassoli, Teresa
Auyeung, Bonnie
Murphy, Laura C
Baron-Cohen, Simon
Chakrabarti, Bhismadev
author_facet Tavassoli, Teresa
Auyeung, Bonnie
Murphy, Laura C
Baron-Cohen, Simon
Chakrabarti, Bhismadev
author_sort Tavassoli, Teresa
collection PubMed
description 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.
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spelling pubmed-34340222012-09-06 Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children Tavassoli, Teresa Auyeung, Bonnie Murphy, Laura C Baron-Cohen, Simon Chakrabarti, Bhismadev Mol Autism Short Report 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. BioMed Central 2012-07-06 /pmc/articles/PMC3434022/ /pubmed/22769427 http://dx.doi.org/10.1186/2040-2392-3-6 Text en Copyright ©2012 Tavassoli et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Report
Tavassoli, Teresa
Auyeung, Bonnie
Murphy, Laura C
Baron-Cohen, Simon
Chakrabarti, Bhismadev
Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title_full Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title_fullStr Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title_full_unstemmed Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title_short Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
title_sort variation in the autism candidate gene gabrb3 modulates tactile sensitivity in typically developing children
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434022/
https://www.ncbi.nlm.nih.gov/pubmed/22769427
http://dx.doi.org/10.1186/2040-2392-3-6
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