Show simple item record

dc.contributor.authorTavassoli, Teresaen
dc.contributor.authorAuyeung, Bonnieen
dc.contributor.authorMurphy, Laura Cen
dc.contributor.authorBaron-Cohen, Simonen
dc.contributor.authorChakrabarti, Bhismadeven
dc.date.accessioned2012-09-05T11:10:13Z
dc.date.available2012-09-05T11:10:13Z
dc.date.issued2012-07-06en
dc.identifier.issn2040-2392
dc.identifier.urihttp://www.dspace.cam.ac.uk/handle/1810/243674
dc.description.abstractAbstractBackgroundAutism 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.FindingsAcross 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).ConclusionsThis 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.
dc.languageEnglishen
dc.language.isoen
dc.titleVariation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing childrenen
dc.typeArticle
dc.date.updated2012-09-05T11:10:14Z
dc.description.versionRIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.en
dc.rights.holderTeresa Tavassoli et al.; licensee BioMed Central Ltd.
prism.publicationDate2012en
dcterms.dateAccepted2012-06-08en
rioxxterms.versionofrecord10.1186/2040-2392-3-6en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2012-07-06en
dc.contributor.orcidBaron-Cohen, Simon [0000-0001-9217-2544]
dc.identifier.eissn2040-2392
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idMRC (G0600977)


Files in this item

Thumbnail
Thumbnail
Thumbnail

This item appears in the following Collection(s)

Show simple item record