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Molecular Autism
Published in: Molecular Autism 1/2014

Open Access 01-12-2014 | Research

Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome

Authors: Agnese Di Napoli, Varun Warrier, Simon Baron-Cohen, Bhismadev Chakrabarti

Published in: Molecular Autism | Issue 1/2014

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Abstract

Background

Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC.

Methods

The present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis.

Results

There was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs2268490-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD).

Conclusions

This study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.
Appendix
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Metadata
Title
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
Authors
Agnese Di Napoli
Varun Warrier
Simon Baron-Cohen
Bhismadev Chakrabarti
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2014
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-5-48

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