Cited by 163Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

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Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high‐functioning level

Wermter, Anne‐Kathrin, Kamp‐Becker, Inge, Hesse, Philipp, Schulte‐Körne, Gerd, Strauch, Konstantin, Remschmidt, Helmut·2010·American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

DOI 10.1002/ajmg.b.31032

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Abstract

An increasing number of animal studies advert to a substantial role of the neuropeptide oxytocin in the regulation of social attachment and affiliation. Furthermore, animal studies showed anxiety and stress‐reduced effects of oxytocin. First human studies confirm these findings in animal studies and implicate a crucial role of oxytocin in human social attachment behavior and in social interactions. Thus, the oxytocin system might be involved in the impairment of social interaction and attachment in autism spectrum disorders (ASD). The human oxytocin receptor gene (OXTR) represents a plausible candidate gene for the etiology of ASD. To analyze whether genetic variants in the OXTR gene are associated with ASD we performed family‐based single‐marker and haplotype association analyses with 22 single nucleotide polymorphisms (SNPs) in the OXTR and its 5′ region in 100 families with autistic disorders on high‐functioning level (Asperger syndrome (AS), high‐functioning autism (HFA), and atypical autism (AA)). Single‐marker and haplotype association analyses revealed nominally significant associations of one single SNP and one haplotype with autism, respectively. Furthermore, employing a “reverse phenotyping” approach, patients carrying the haplotype associated with autism showed nominally significant impairments in comparison to noncarriers of the haplotype in items of the Autism Diagnostic Interview‐Revised algorithm describing aspects of social interaction and communication. In conclusion, our results implicate that genetic variation in the OXTR gene might be relevant in the etiology of autism on high‐functioning level. © 2009 Wiley‐Liss, Inc.

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Authors: Wermter, A., Kamp‐Becker, I., Hesse, P., Schulte‐Körne, G., Strauch, K., & Remschmidt, H.
Affiliations: Philipps University of Marburg (DE)
Corresponding author: Wermter, Anne‐Kathrin
ORCID: Kamp‐Becker, Inge
Schulte‐Körne, Gerd
Strauch, Konstantin
Venue: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Publisher: Wiley
Published: 2010-02-18
Volume: 153B
Issue: 2
Pages: 629-639
ISSN: 1552-4841 (ISSN-L)
1552-485X
DOI: 10.1002/ajmg.b.31032
OpenAlex: W2171723215
Cited by: 163
References: 43
Citations by year: 2026: 2 · 2024: 5 · 2023: 8 · 2022: 5 · 2021: 4 · 2020: 6 · 2019: 2 · 2018: 8 · 2017: 12 · 2016: 14 · 2015: 11 · 2014: 16 · 2013: 18 · 2012: 22
FWCI: 8.23
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: oxytocin receptor gene, oxytocin receptor, autism spectrum disorder, high-functioning autism, Asperger syndrome, atypical autism, genetic association, single nucleotide polymorphisms, haplotype association, oxytocin, social interaction, social attachment, candidate genes
MeSH terms: Adolescent, Adult, Autistic Disorder, Child, Female, Genetic Markers, Genotype, Humans, Male, Models, Genetic, Genetic Variation, Linkage Disequilibrium, Receptors, Oxytocin, Polymorphism, Single Nucleotide, Asperger Syndrome

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Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high‐functioning level

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