Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Open accessAbstract
BACKGROUND: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. METHODS: We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We also assessed oxytocin receptor (OXTR) gene expression within the temporal cortex tissue by quantitative real-time polymerase chain reaction (PCR). RESULTS: Our analysis revealed a genomic deletion containing the oxytocin receptor gene, OXTR (MIM accession no.: 167055), previously implicated in autism, was present in an autism proband and his mother who exhibits symptoms of obsessive-compulsive disorder. The proband's affected sibling did not harbor this deletion but instead may exhibit epigenetic misregulation of this gene through aberrant gene silencing by DNA methylation. Further DNA methylation analysis of the CpG island known to regulate OXTR expression identified several CpG dinucleotides that show independent statistically significant increases in the DNA methylation status in the peripheral blood cells and temporal cortex in independent datasets of individuals with autism as compared to control samples. Associated with the increase in methylation of these CpG dinucleotides is our finding that OXTR mRNA showed decreased expression in the temporal cortex tissue of autism cases matched for age and sex compared to controls. CONCLUSION: Together, these data provide further evidence for the role of OXTR and the oxytocin signaling pathway in the etiology of autism and, for the first time, implicate the epigenetic regulation of OXTR in the development of the disorder.See the related commentary by Gurrieri and Neri: http://www.biomedcentral.com/1741-7015/7/63.
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Elevated promoter methylation in OXTR has been reported in persons with autism spectrum disorder compared with controls.
“Elevated promoter methylation in OXTR has also been reported in persons with autism spectrum disorder, as compared with controls.8”
From Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder (2021) · cites this paper as [8]
Unlike the current study, which used histological sections to preserve neuroanatomy, both prior studies worked with tissue homogenates.
“Finally, unlike the current study, which used histological sections to preserve neuroanatomy, both of these prior studies worked with tissue homogenates.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [58]
Both prior studies examined only a single cortical region of interest, rather than multiple neighboring and distant areas as the current study did.
“In addition, both studies examined only a single cortical region of interest, rather than multiple neighboring and distant areas as we did in the current study.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [58]
Prior studies focused primarily on mechanisms that regulate OXTR gene expression and did not directly measure binding to mature, cell-surface OXTR protein.
“However, these studies focused primarily on the mechanisms that regulate OXTR gene expression (microRNAs57 and epigenetics58) and did not directly measure binding to mature, cell-surface OXTR protein, as receptor autoradiography does, which was used in this study.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [58]
Gregory et al. reported decreased OXTR mRNA in the superior temporal gyrus of ASD specimens.
“Gregory et al.58 reported decreased OXTR mRNA in the superior temporal gyrus of ASD specimens, but Mor et al.57 reported increased OXTR mRNA in the prefrontal cortex of ASD specimens.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [58]
Two studies have previously examined the levels of OXTR gene transcripts in postmortem ASD brain specimens, in the prefrontal cortex and temporal cortex.
“Two studies have previously examined the levels of OXTR gene transcripts in postmortem ASD brain specimens (in the prefrontal cortex57 and temporal cortex58).”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [58]
There is one report of decreased oxytocin receptor mRNA in cortical tissue in a very small sample of autism spectrum disorder subjects.
“There is one report of decreased OXTR mRNA in cortical tissue in a very small sample of ASD subjects (75).”
From Comparative Perspectives on Oxytocin and Vasopressin Receptor Research in Rodents and Primates: Translational Implications (2016) · cites this paper as [75]
Postmortem brain analyses found a specific decrease in oxytocin mRNA in the temporal cortex in ASD, associated with hypermethylation.
“postmortem brain analyses were found to have a specific decrease in oxytocin mRNA in the temporal cortex in ASD, which was associated with hypermethylation [171].”
From Social “wanting” dysfunction in autism: neurobiological underpinnings and treatment implications (2012) · cites this paper as [171]
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- Authors
- Gregory, S. G., Connelly, J. J., Towers, A. J., Johnson, J., Biscocho, D., Markunas, C. A., Lintas, C., Abramson, R. K., Wright, H. H., Ellis, P., Langford, C. F., Worley, G., Delong, G. R., Murphy, S. K., Cuccaro, M. L., Persico, A., & Pericak-Vance, M. A.
- Affiliations
- Duke University (US)
- Università Campus Bio-Medico (IT)
- University of South Carolina (US)
- Wellcome Sanger Institute (GB)
- University of Miami (US)
- Corresponding author
- Gregory, Simon G
- ORCID
- Venue
- BMC Medicine
- Published
- 2009-10-22
- Volume
- 7
- Issue
- 1
- Pages
- 62-62
- ISSN
- 1741-7015 (ISSN-L)
- PMC
- PMC2774338
- OpenAlex
- W2145850516
- Cited by
- 576
- References
- 80
- Citations by year
- 2026: 12 · 2025: 10 · 2024: 14 · 2023: 35 · 2022: 28 · 2021: 41 · 2020: 31 · 2019: 36 · 2018: 32 · 2017: 43 · 2016: 48 · 2015: 46 · 2014: 49 · 2013: 46 · 2012: 42
- FWCI
- 16.78
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- BMC Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Hussman Foundation
- Ministero dell’Istruzione, dell’Università e della Ricerca (2006058195)
- National Institutes of Health
- U.S. Public Health Service (R01-NIH080647)
- National Institute of Neurological Disorders and Stroke (P01NS026630)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, oxytocin receptor, copy number variation, genomic deletions, DNA methylation, epigenetic regulation, gene silencing, CpG islands, temporal cortex, oxytocin signaling pathway, obsessive-compulsive disorder, autism etiology
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, DNA, Female, Humans, Male, Sequence Deletion, Receptors, Oxytocin, DNA Methylation, Microarray Analysis, Comparative Genomic Hybridization, Young Adult
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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