Differential Methylation of the Oxytocin Receptor Gene in Patients with Anorexia Nervosa: A Pilot Study
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BACKGROUND AND AIM: Recent studies in patients with anorexia nervosa suggest that oxytocin may be involved in the pathophysiology of anorexia nervosa. We examined whether there was evidence of variation in methylation status of the oxytocin receptor (OXTR) gene in patients with anorexia nervosa that might account for these findings. METHODS: We analyzed the methylation status of the CpG sites in a region from the exon 1 to the MT2 regions of the OXTR gene in buccal cells from 15 patients and 36 healthy women using bisulfite sequencing. We further examined whether methylation status was associated with markers of illness severity or form. RESULTS: We identified six CpG sites with significant differences in average methylation levels between the patient and control groups. Among the six differentially methylated CpG sites, five showed higher than average methylation levels in patients than those in the control group (64.9-88.8% vs. 6.6-45.0%). The methylation levels of these five CpG sites were negatively associated with body mass index (BMI). BMI, eating disorders psychopathology, and anxiety were identified in a regression analysis as factors affecting the methylation levels of these CpG sites with more variation accounted for by BMI. CONCLUSIONS: Epigenetic misregulation of the OXTR gene may be implicated in anorexia nervosa, which may either be a mechanism linking environmental adversity to risk or may be a secondary consequence of the illness.
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Based on effect sizes from studies of other oxytocin genes, particularly OXTR, a sample of at least 66 participants was estimated to be adequate for testing each hypothesis.
“based on effect sizes reported in studies investigating other oxytocin genes (19,20,46,47), namely OXTR, and behavior or brain associations, we estimated that a sample size of 66 or larger would be adequate to test each of our hypotheses.”
From Epigenetic modification of <i>OXT</i> and human sociability (2016) · cites this paper as [47]
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- Authors
- Kim, Y.-R., Kim, J.-H., Kim, M. J., & Treasure, J.
- Affiliations
- Inje University Seoul Paik Hospital (KR)
- Inje University (KR)
- King's College London (GB)
- Corresponding author
- Kim, Youl-Ri
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-02-11
- Volume
- 9
- Issue
- 2
- Pages
- e88673
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3921190
- OpenAlex
- W2023500328
- Cited by
- 97
- References
- 64
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 13 · 2022: 4 · 2021: 7 · 2020: 6 · 2019: 11 · 2018: 12 · 2017: 11 · 2016: 12 · 2015: 7 · 2014: 3
- FWCI
- 13.02
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- South London and Maudsley NHS Foundation Trust
- National Institute for Health and Care Research
- King's College London
- National Research Foundation
- National Research Foundation of Korea
- Schweizerische Anorexia Nervosa Stiftung
- Topics
- Social Sciences › Psychology › Clinical Psychology › Eating Disorders and Behaviors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Keywords
- anorexia nervosa, oxytocin receptor gene, DNA methylation, epigenetic regulation, CpG sites, body mass index, eating disorder psychopathology, anxiety, buccal epithelial cells, gene expression regulation
- MeSH terms
- Adult, Anorexia Nervosa, Female, Humans, Pilot Projects, Surveys and Questionnaires, Risk, Sulfites, Body Mass Index, Case-Control Studies, Sequence Analysis, DNA, Receptors, Oxytocin, CpG Islands, DNA Methylation, Epigenesis, Genetic, Young Adult
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