title: Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.
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.
authors.affiliation: Autism Research Centre, Department of Psychiatry, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH UK.
authors.forename: Agnese
authors.initials: A
authors.lastname: Di Napoli
authors.affiliation: Autism Research Centre, Department of Psychiatry, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH UK.
authors.forename: Varun
authors.initials: V
authors.lastname: Warrier
authors.affiliation: Autism Research Centre, Department of Psychiatry, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH UK ; Cambridgeshire and Peterborough NHS Foundation Trust, CLASS Clinic, Cambridge, Elizabeth House, Fulbourn Hospital, Cambridge, CB21 5EF UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Baron-Cohen
authors.affiliation: Autism Research Centre, Department of Psychiatry, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH UK ; Centre for Integrative Neurosciences and Neurodynamics, School of Psychology and Clinical Language Sciences, University of Reading, Reading, RG6 6AL UK.
authors.forename: Bhismadev
authors.initials: B
authors.lastname: Chakrabarti
keywords: Asperger Syndrome (AS); Autism Spectrum Conditions (ASC); Haplotype analysis; Oxytocin receptor (OXTR)