The DOI matches its Crossref record; 61 of the 62 references it cites were found in a registry or an index.
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder
Open accessAbstract
Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families.
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“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 [9]
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“It is suggested that rs7632287 examined in the present study is functional, since it is located within binding sites of transcription factors COUP-TF (related to the presence of rs7632287*A allele) and N-MYC, ARNT, and USF (related to the presence of rs7632287*G allele); however, the question on the mechanism of actio…”
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“Abnormalities in the gene that encodes for Oxtr [28] as well as in Oxt have been found in ASD [29].”
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Metadata
- Authors
- Campbell, D. B., Datta, D., Jones, S. T., Batey Lee, E., Sutcliffe, J. S., Hammock, E. A. D., & Levitt, P.
- Affiliations
- University of Southern California (US)
- Vanderbilt University (US)
- Corresponding author
- Campbell, Daniel B.
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2011-01-06
- Volume
- 3
- Issue
- 2
- Pages
- 101-112
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC3113442
- OpenAlex
- W2016290219
- Cited by
- 170
- References
- 62
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 4 · 2023: 8 · 2022: 7 · 2021: 5 · 2020: 10 · 2019: 10 · 2018: 12 · 2017: 11 · 2016: 14 · 2015: 14 · 2014: 22 · 2013: 15 · 2012: 22
- FWCI
- 10.89
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Vanderbilt University
- National Institute of Mental Health (R01MH080759, T32MH065215)
- 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
- autism spectrum disorder, oxytocin receptor, genetic association, social behavior, oxytocin signaling, family-based association
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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