Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
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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.
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Genetic alteration of OXTR is associated with autism spectrum disorder occurrence.
“Previous studies reported that genetic alteration of OXTR is associated with ASD occurrence;21, 24”
From Oxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial (2016) · cites this paper as [24]
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- Authors
- Di Napoli, A., Warrier, V., Baron-Cohen, S., & Chakrabarti, B.
- Affiliations
- University of Cambridge (GB)
- Venue
- Molecular Autism
- Published
- 2014
- Volume
- 5
- Issue
- 1
- Pages
- 48
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC4175274
- OpenAlex
- W2140577277
- Cited by
- 59
- References
- 48
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 4 · 2023: 4 · 2022: 1 · 2021: 3 · 2020: 5 · 2019: 3 · 2018: 6 · 2017: 13 · 2016: 6 · 2015: 11
- FWCI
- 5.58
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Molecular Autism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- CentAUR (University of Reading) (acceptedVersion, public-domain)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research
- University of Cambridge
- Cambridge Commonwealth Trust
- Max Planck Instituut voor Psycholinguïstiek
- Medical Research Council
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- oxytocin receptor, Asperger syndrome, autism spectrum disorder, genetic association, single nucleotide polymorphisms, haplotypes, oxytocin, linkage disequilibrium, transcription factor binding sites, chromatin regulation
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