The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high‐functioning level
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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In the citing paper
“many of these genetic studies have found that polymorphisms in the human OXT receptor (OXTR) gene are significantly associated with an ASD diagnosis and/or predict the severity of ASD4–12.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [11]
In the citing paper
“Wermter et al.37 found that 11 carriers of the T–G–T–T haplotype at rs237851–rs6791619–rs53576–rs237884 have more impairment than 89 noncarriers in social interaction and communication domains of the Autism Diagnostic Interview-Revised56 in individuals with ASD.”
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 [37]
In the citing paper
“the SNP is considered a part of haplotype associated with impairment of core ASD symptoms.37”
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 [37]
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Metadata
- 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
- 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
- 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
- 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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