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The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review
Open accessAbstract
BACKGROUND: The neuropeptide Oxytocin (OXT) plays a central role in birthing, mother-infant bonding and a broad range of related social behaviours in mammals. More recently, interest has extended to epigenetic programming of genes involved in oxytocinergic neurotransmission. This review brings together early findings in a rapidly developing field of research, examining relationships between DNA methylation (DNAm) of the Oxytocin Receptor Gene (OXTR) and social and emotional behaviour in human populations. METHOD: A systematic search across Web of Knowledge/Science, Scopus, Medline and EMBASE captured all published studies prior to June 2017 examining the association between OXTR DNAm and human social and emotional outcomes. Search terms included 'oxytocin gene' or 'oxytocin receptor gene' and 'epigenetics' or 'DNA methylation'. Any article with a focus on social and emotional functioning was then identified from this set by manual review. RESULTS: Nineteen studies met eligibility criteria. There was considerable heterogeneity of study populations, tissue samples, instrumentation, measurement, and OXTR site foci. Only three studies examined functional consequences of OXTR DNAm on gene expression and protein synthesis. Increases in OXTR DNAm were associated with callous-unemotional traits in youth, social cognitive deficits in Autistic Spectrum Disorder (ASD), rigid thinking in anorexia nervosa, affect regulation problems, and problems with facial and emotional recognition. In contrast, reductions in DNAm were associated with perinatal stress, postnatal depression, social anxiety and autism in children. CONCLUSIONS: Consistent with an emerging field of inquiry, there is not yet sufficient evidence to draw conclusions about the role of OXTR DNAm in human social and emotional behaviour. However, taken together, findings point to increased OXTR DNAm in general impairments in social, cognitive and emotional functioning, and decreased OXTR DNAm in specific patterns of impairment related to mood and anxiety disorders (but not in all). Future progress in this field would be enhanced by adequately powered designs, greater phenotypic precision, and methodological improvements including longitudinal studies with multiple time-points to facilitate causal inference.
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“In the endocrine system, OXT is secreted by the posterior pituitary into the bloodstream to support reproductive processes like uterine contraction and lactation (Grewen et al., 2010; Maud et al., 2018).”
From Music's context-dependent influence on oxytocin, social bonding, and emotion regulation: a systematic review (2026) · cites this paper as Maud et al., 2018
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Metadata
- Authors
- Maud, C., Ryan, J., McIntosh, J. E., & Olsson, C. A.
- Affiliations
- Deakin University (AU)
- Royal Children's Hospital (AU)
- Corresponding author
- Maud, Catherine
- Venue
- BMC Psychiatry
- Published
- 2018-05-29
- Volume
- 18
- Issue
- 1
- Pages
- 154-154
- ISSN
- 1471-244X (ISSN-L)
- PMC
- PMC5975530
- OpenAlex
- W2805059767
- Cited by
- 151
- References
- 68
- Citations by year
- 2026: 19 · 2025: 17 · 2024: 15 · 2023: 20 · 2022: 19 · 2021: 24 · 2020: 22 · 2019: 9 · 2018: 5
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- BMC Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Monash University Research Portal (Monash University) (submittedVersion, other-oa)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- oxytocin receptor gene, oxytocin receptor, DNA methylation, epigenetics, oxytocin, social behavior, emotional functioning, callous-unemotional traits, autism spectrum disorder, anorexia nervosa, emotion regulation, perinatal stress, postpartum depression, social anxiety, mood disorders
- MeSH terms
- Cognition, Emotions, Humans, Synaptic Transmission, Oxytocin, Social Behavior, Receptors, Oxytocin, DNA Methylation, Gene Expression Profiling, Epigenomics
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