The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
Abstract
The oxytocin receptor gene (OXTR) has been studied as a risk factor for autism spectrum disorder (ASD) owing to converging evidence from multiple levels of analysis that oxytocin (OXT) has an important role in the regulation of affiliative behavior and social bonding in both nonhuman mammals and humans. Inconsistency in the effect sizes of the OXTR variants included in association studies render it unclear whether OXTR is truly associated with ASD, and, if so, which OXTR single-nucleotide polymorphisms (SNPs) are associated. Thus, a meta-analytic review of extant studies is needed to determine whether OXTR shows association with ASD, and to elucidate which specific SNPs have a significant effect on ASD. The current meta-analysis of 16 OXTR SNPs included 3941 individuals with ASD from 11 independent samples, although analyses of each individual SNP included a subset of this total. We found significant associations between ASD and the SNPs rs7632287, rs237887, rs2268491 and rs2254298. OXTR was also significantly associated with ASD in a gene-based test. The current meta-analysis is the largest and most comprehensive investigation of the association of OXTR with ASD and the findings suggest directions for future studies of the etiology of ASD.
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A meta-analysis has tentatively supported an association between autism spectrum disorder and polymorphisms in the oxytocin receptor gene OXTR, but not at genomewide significance.
“A meta-analysis has tentatively supported an association between autism spectrum disorder and polymorphisms in the oxytocin receptor gene, OXTR, but not at the level of genomewide significance.7”
From Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder (2021) · cites this paper as [7]
Specific single nucleotide polymorphisms in the human oxytocin receptor gene are associated with an autism spectrum disorder diagnosis.
“There is also growing evidence from genetic studies that specific SNPs in the human OXTR gene are associated with an ASD diagnosis (71).”
From Comparative Perspectives on Oxytocin and Vasopressin Receptor Research in Rodents and Primates: Translational Implications (2016) · cites this paper as [71]
Within the third intron of human OXTR, a CTCF peak is close to SNP rs237887, predicted to lie near a cis-regulatory element and linked to face recognition and ASD diagnosis.
“In the human OXTR third intron, the CTCF peak is found near a SNP, rs237887, that was predicted to be near a cis-RE, and associated with face recognition abilities (20) and ASD diagnosis (21).”
From Variation in the Oxytocin Receptor Gene Predicts Brain Region–Specific Expression and Social Attachment (2016) · cites this paper as [21]
A recent meta-analysis concludes that OXTR genetic variation is linked to ASD diagnosis.
“A recent meta-analysis supports the conclusion that genetic variation in OXTR is associated with ASD diagnosis (21)”
From Variation in the Oxytocin Receptor Gene Predicts Brain Region–Specific Expression and Social Attachment (2016) · cites this paper as [21]
Abnormalities in emotion recognition are central to several psychiatric conditions including ASD, in which OTR polymorphisms and insular cortex hypofunction are correlates of symptom severity.
“Abnormalities in emotion recognition are central to several psychiatric conditions including ASD47,48, in which OTR polymorphisms49,50 and insular cortex hypofunction8,9 are correlates of symptom severity.”
From Insular cortex mediates approach and avoidance responses to social affective stimuli (2018) · cites this paper as [49]
Single nucleotide polymorphisms in OXTR are associated with autism diagnosis.
“and autism diagnosis [34].”
From Translational opportunities for circuit-based social neuroscience: advancing 21st century psychiatry (2021) · cites this paper as [34]
Genetic variation in human OXTR contributes to variation in behavior.
“Similar to findings in prairie voles, multiple studies suggest that genetic variation in human OXTR contributes to variation in behavior.”
From Translational opportunities for circuit-based social neuroscience: advancing 21st century psychiatry (2021) · cites this paper as [34]
Significant genetic associations exist between ASD and OTR SNPs rs7632287, rs237887, rs2268491, and rs2254298.
“A recent meta-analysis reported significant genetic associations between ASD and the OTR SNPs (single-nucleotide polymorphism) rs7632287, rs237887, rs2268491, and rs2254298 (LoParo and Waldman 2015).”
From A precision medicine approach to oxytocin trials (2017) · cites this paper as LoParo and Waldman 2015
Intranasally administered oxytocin acts through the oxytocin receptor (OXTR).
“Intranasally administered oxytocin is considered to act through the oxytocin receptor (OXTR).21, 22”
From Oxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial (2016) · cites this paper as [21]
Genetic alteration of OXTR is associated with autism spectrum disorder occurrence.
“Previous studies reported that genetic alteration of OXTR is associated with ASD occurrence;21, 24”
From Oxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial (2016) · cites this paper as [21]
rs6791619 is not solely associated with ASD occurrence.
“a recent meta-analysis revealed that rs6791619 is not solely associated with ASD occurrence,21”
From Oxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial (2016) · cites this paper as [21]
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References 71 · Cited by 343
- Authors
- LoParo, D., & Waldman, I. D.
- Affiliations
- Emory University (US)
- Corresponding author
- LoParo, D
- Venue
- Molecular Psychiatry
- Published
- 2014-08-05
- Volume
- 20
- Issue
- 5
- Pages
- 640-646
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2089128674
- Cited by
- 343
- References
- 71
- Citations by year
- 2026: 16 · 2025: 23 · 2024: 18 · 2023: 34 · 2022: 30 · 2021: 34 · 2020: 30 · 2019: 25 · 2018: 35 · 2017: 35 · 2016: 31 · 2015: 31
- FWCI
- 3.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- 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
- oxytocin receptor gene, oxytocin receptor, autism spectrum disorder, single nucleotide polymorphisms, genetic association, rs2254298, oxytocin, social bonding, affiliative behavior, ASD etiology
- MeSH terms
- Autism Spectrum Disorder, Animals, Genetic Testing, Humans, Receptors, Oxytocin, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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