ArticleMolecular psychiatry2008
Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.
Article in Molecular psychiatry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers, 3 of them syntheses that pooled it.
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Who cites it
152 citing papers in PubMed, 3 syntheses or guidelines pooled it, 351 citations in OpenAlex.
- A systematic review of common genetic variation and biological pathways in autism spectrum disorder.BMC neuroscience · 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
- The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.Molecular psychiatry · 2015Pooled 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
- Genetic modulation of oxytocin sensitivity: a pharmacogenetic approach.Translational psychiatry · 2015Trial
- Nasal oxytocin for social deficits in childhood autism: a randomized controlled trial.Journal of autism and developmental disorders · 2014Trial
- Oxytocin promotes facial emotion recognition and amygdala reactivity in adults with asperger syndrome.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014Trial
- Effects of a common variant in the CD38 gene on social processing in an oxytocin challenge study: possible links to autism.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2012Trial
- HPSC-derived mesenchymal stromal cells ameliorate murine autistic-like phenotypes through activating oxytocinergic neurons.Science advances · 2026Article
- Bridging Genes and Behavior in Autism Spectrum Disorder: Contributions of OXTR Gene Variants and Methylation to Brain Connectivity Patterns.Psychiatry investigation · 2026Article
- The Oxytocin System and Implications for Oxytocin Deficiency in Hypothalamic-Pituitary Disease.Endocrine reviews · 2025Review
- Oxytocin Receptor Polymorphism Is Associated With Sleep Apnea Symptoms.Journal of the Endocrine Society · 2024Article
- The gut microbiome and sociability.Frontiers in neuroscience · 2024Review
- Article
- Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males.Brain sciences · 2023Article
- Roles of the Oxytocin Receptor (OXTR) in Human Diseases.International journal of molecular sciences · 2023Review
- RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis.Frontiers in molecular biosciences · 2023Article
- Involvement of oxytocin receptor deficiency in psychiatric disorders and behavioral abnormalities.Frontiers in cellular neuroscience · 2023Review
- Oxytocin: A Multi-Functional Biomolecule with Potential Actions in Dysfunctional Conditions; From Animal Studies and Beyond.Biomolecules · 2022Review
- Oxytocin and vasotocin receptor variation and the evolution of human prosociality.Comprehensive psychoneuroendocrinology · 2022Article
92 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Evidence both from animal and human studies suggests that common polymorphisms in the oxytocin receptor (OXTR) gene are likely candidates to confer risk for autism spectrum disorders (ASD). In lower mammals, oxytocin is important in a wide range of social behaviors, and recent human studies have shown that administration of oxytocin modulates behavior in both clinical and non-clinical groups. Additionally, two linkage studies and two recent association investigations also underscore a possible role for the OXTR gene in predisposing to ASD. We undertook a comprehensive study of all 18 tagged SNPs across the entire OXTR gene region identified using HapMap data and the Haploview algorithm. Altogether 152 subjects diagnosed with ASDs (that is, DSM IV autistic disorder or pervasive developmental disorder--NOS) from 133 families were genotyped (parents and affected siblings). Both individual SNPs and haplotypes were tested for association using family-based association tests as provided in the UNPHASED set of programs. Significant association with single SNPs and haplotypes (global P-values <0.05, following permutation test adjustment) were observed with ASD. Association was also observed with IQ and the Vineland Adaptive Behavior Scales (VABS). In particular, a five-locus haplotype block (rs237897-rs13316193-rs237889-rs2254298-rs2268494) was significantly associated with ASD (nominal global P=0.000019; adjusted global P=0.009) and a single haplotype (carried by 7% of the population) within that block showed highly significant association (P=0.00005). This is the third association study, in a third ethnic group, showing that SNPs and haplotypes in the OXTR gene confer risk for ASD. The current investigation also shows association with IQ and total VABS scores (as well as the communication, daily living skills and socialization subdomains), suggesting that this gene shapes both cognition and daily living skills that may cross diagnostic boundaries.
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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.