The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism
Open accessAbstract
Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor ( OXTR ). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy. Participants were adolescents (mean age = 14.7 ± 1.7) who were genotyped for single nucleotide polymorphisms (SNPs) within the OXTR and underwent functional brain imaging while completing the adolescent version of the ‘Reading the Mind in the Eyes’ Test (Eyes Test). Two (rs2254298, rs53576) of the five OXTR SNPs examined were significantly associated with brain activity during the Eyes Test, and three of the SNPs (rs2254298, rs53576, rs2268491) interacted with diagnostic status to predict brain activity. All of the effects localized to the right supramarginal gyrus (rSMG) and an overlap analysis revealed a large overlap of the effects. An exploratory analysis showed that activity within an anatomically defined rSMG and genotype can predict diagnostic status with reasonable accuracy. This is one of the first studies to investigate OXTR and brain function in autism. The findings suggest a neurogenetic mechanism by which OXTR -dependent activity within the rSMG is related to the aetiology of autism.
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Variations of the OXTR have been associated with individual differences in the capacity and tendency to empathize with others' emotional states in healthy individuals and related brain function in individuals with ASD.
“Further, variations of the oxytocin receptor gene (OXTR) have been associated with individual differences in the capacity and tendency to empathize with others’ emotional states in healthy individuals25–30 and related brain function in individuals with ASD31.”
From Randomized clinical trial shows no substantial modulation of empathy-related neural activation by intranasal oxytocin in autism (2021) · cites this paper as [31]
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Neural functions of hypothalamic oxytocin and its regulation
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- Authors
- Uzefovsky, F., Bethlehem, R. A. I., Shamay-Tsoory, S., Ruigrok, A., Holt, R., Spencer, M., Chura, L., Warrier, V., Chakrabarti, B., Bullmore, E., Suckling, J., Floris, D., & Baron-Cohen, S.
- Affiliations
- Ben-Gurion University of the Negev (IL)
- University of Cambridge (GB)
- University of Reading (GB)
- Corresponding author
- Uzefovsky, Florina
- ORCID
- Venue
- Molecular Autism
- Published
- 2019-03-12
- Volume
- 10
- Issue
- 1
- Pages
- 12-12
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC6419364
- OpenAlex
- W2936520785
- Cited by
- 49
- References
- 102
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 7 · 2023: 6 · 2022: 18 · 2021: 9 · 2020: 3 · 2019: 1
- FWCI
- 4.51
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Molecular Autism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion, other-oa)
- CentAUR (University of Reading) (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Apollo (cc-by)
- Funders
- Israel Science Foundation (449/14)
- British Friends of the Hebrew University
- Joseph Levy charitable foundation
- UK Medical Research Council (G0701919)
- Pinsent Darwin Trust
- William Binks Autism Neuroscience Fellowship
- Medical Research Council
- Wellcome Trust
- Autism Research Trust
- National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care East of England at Cambridgeshire and Peterborough NHS Foundation Trust
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, oxytocin receptor gene, oxytocin receptor, single nucleotide polymorphisms, emotion recognition, cognitive empathy, Reading the Mind in the Eyes Test, adolescents, neurogenetics, brain activity
- MeSH terms
- Facial Recognition, Adolescent, Autistic Disorder, Brain, Child, Emotions, Female, Genotype, Humans, Magnetic Resonance Imaging, Male, Receptors, Oxytocin, Polymorphism, Single Nucleotide
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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.
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