Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.

Abstract

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.

• Authors: Katherine E Tansey, Keeley J Brookes, Matthew J Hill, Lynne E Cochrane, Michael Gill, David Skuse, Catarina Correia, Astrid Vicente, Lindsey Kent, Louise Gallagher, Richard J L Anney
• Journal: Neuroscience letters (Neurosci Lett) Vol. 474 Issue 3 Pg. 163-167 (May 03 2010) ISSN: 1872-7972 [Electronic] Ireland
• PMID: 20303388 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: 2010 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• Receptors, Oxytocin

Topics

• Autistic Disorder (genetics)
• Genetic Predisposition to Disease
• Genotype
• Humans
• Polymorphism, Single Nucleotide
• Receptors, Oxytocin (genetics)
• White People (genetics)