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

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Di Napoli, A., Warrier, V., Baron-Cohen, S. and Chakrabarti, B. (2014) Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome. Molecular Autism, 5 (1). p. 48. ISSN 2040-2392

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To link to this item DOI: 10.1186/2040-2392-5-48

Abstract/Summary

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.

Item Type:Article
Refereed:Yes
Divisions:Interdisciplinary centres and themes > Centre for Integrative Neuroscience and Neurodynamics (CINN)
Interdisciplinary centres and themes > ASD (Autism Spectrum Disorders) Research Network
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Department of Psychology
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Neuroscience
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Psychopathology and Affective Neuroscience
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Social
ID Code:37882
Uncontrolled Keywords:Autism Spectrum Conditions (ASC); Asperger Syndrome (AS); Oxytocin receptor (OXTR); Haplotype analysis
Publisher:BioMed Central

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