Repositório Científico do Instituto Nacional de Saúde >
Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis >
DPSPDNT - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/235

Título: Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies
Autor: Tansey, K.E.
Brookes, K.J.
Hill, M.J.
Cochrane, L.E.
Gill, M.
Skuse, D.
Correia, C.
Vicente, A.
Kent, L.
Gallagher, L.
Anney, R.J.
Palavras-chave: Oxytocin
Autism
Oxytocin receptor
Allelic expression imbalance
cis-Acting variation
Perturbações do Desenvolvimento Infantil e Saúde Mental
Issue Date: 3-May-2010
Editora: Elsevier
Citação: Neurosci Lett. 2010 May 3;474(3):163-7. Epub 2010 Mar 18
Resumo: Oxytocin (OXT) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. It is postulated that OXT reduces activation of the amygdala, inhibiting social anxiety, indicating a neural mechanism for the effects of OXT in social cognition. Genetic variation at the oxytocin receptor gene (OXTR) has been reported to be associated with autism. We examined 18 SNPs at the OXTR gene for association in three independent autism samples from Ireland, Portugal and the United Kingdom. We investigated cis-acting genetic effects on OXTR expression in lymphocytes and amygdala region of the brain using an allelic expression imbalance (AEI) assay and by investigating the correlation between RNA levels and genotype in the amygdala region. No marker survived multiple correction for association with autism in any sample or in a combined sample (n=436). Results from the AEI assay performed in the lymphoblast cell lines highlighted two SNPs associated with relative allelic abundance in OXTR (rs237897 and rs237895). Two SNPs were found to be effecting cis-acting variation through AEI in the amygdala. One was weakly correlated with total gene expression (rs13316193) and the other was highlighted in the lymphoblast cell lines (rs237895). Data presented here does not support the role of common genetic variation in OXTR in the aetiology of autism spectrum disorders in Caucasian samples.
URI: http://hdl.handle.net/10400.18/235
ISSN: 0304-3940
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0304394010003204
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism.pdf154 kBAdobe PDFView/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia