ArticleProceedings of the National Academy of Sciences of the United States of America2014
Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 5 of them syntheses that pooled it.
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Who cites it
124 citing papers in PubMed, 5 syntheses or guidelines pooled it, 226 citations in OpenAlex.
- Genetic polymorphisms and their association with neurobiological and psychological factors in anorexia nervosa: a systematic review.Frontiers in psychology · 2024Pooled it
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- Systematic Review of Literature on Single-Nucleotide Polymorphisms Within the Oxytocin and Vasopressin Receptor Genes in the Development of Social Cognition Dysfunctions in Individuals Suffering From Autism Spectrum Disorder.Frontiers in psychiatry · 2019Pooled it
- A multifaceted approach for analyzing complex phenotypic data in rodent models of autism.Molecular autism · 2019Pooled it
- Endogenous oxytocin and human social interactions: A systematic review and meta-analysis.Psychological bulletinPooled it
- Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2023Trial
- Trial
- Intranasal oxytocin modulates brain responses to voice-identity recognition in typically developing individuals, but not in ASD.Translational psychiatry · 2020Trial
- Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women.Molecular autism · 2020Trial
- Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism.Proceedings of the National Academy of Sciences of the United States of America · 2017Trial
- Oxytocin and RAGE signaling at the intersection of social neurodevelopment and inflammation.Journal of translational medicine · 2026Review
- The oxytocin system mediates behavioral and neurobiological alterations associated with early adversity.Molecular psychiatry · 2026Article
- Article
- Oxytocin: a neglected hormone in pituitary disease - From function to the diagnosis of a deficiency, resulting clinical relevance, and potential treatment options in endocrinology.Archives of endocrinology and metabolism · 2025Review
- Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic Perspectives.Current issues in molecular biology · 2025Review
- Bridging the gap: unveiling key links between autism and anxiety symptoms in autistic children and youth using a network analysis in pooled data from four countries.Child and adolescent mental health · 2025Article
- Salivary Oxytocin Levels in Children With and Without Autism: Group Similarities and Subgroup Variability.Journal of clinical medicine · 2025Article
- LinkedbioRxiv : the preprint server for biology · 2025Article
- Article
- Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs.Translational psychiatry · 2025Article
64 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals and humans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTR SNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3-12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly and positively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h(2) = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the "G" allele of rs53576 showed impaired affect recognition performance and carriers of the "A" allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences on individual differences in human social functioning, including the severe social impairments which characterize ASD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.