The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder
Open accessAbstract
Significance: The neuropeptide oxytocin (OXT) is critically involved in mammalian social functioning, and initial clinical research suggests that OXT biology may be altered in individuals with autism spectrum disorder (ASD). Here we provide important evidence that blood OXT concentrations are highly heritable within families, yet also strongly predict social functioning in ASD children, their unaffected siblings, and healthy control children. These findings also extend to OXT receptor genotypes which are significantly associated with differences in social functioning independent of disease status. These findings indicate that dysregulated OXT biology is not uniquely associated with ASD social phenotypes as widely theorized, but instead variation in OXT biology contributes to important individual differences in human social functioning, including the severe social impairments which characterize ASD.
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“many of these genetic studies have found that polymorphisms in the human OXT receptor (OXTR) gene are significantly associated with an ASD diagnosis and/or predict the severity of ASD4–12.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [5]
In the citing paper
“Recent research in humans found that intronic OXTR variants predicted individual differences in functional connectivity between brain regions during the processing of social information (80, 81).”
From Variation in the Oxytocin Receptor Gene Predicts Brain Region–Specific Expression and Social Attachment (2016) · cites this paper as [81]
In the citing paper
“However, despite these above challenges, there is an increasing body of evidence showing that OT can be used as a biomarker of social functioning (Andari et al. 2014; Parker et al. 2014).”
From A precision medicine approach to oxytocin trials (2017) · cites this paper as Parker et al. 2014
In the citing paper
“Recently, Parker et al. (2014) reported that plasma oxytocin concentration and OTR polymorphisms correlate with social aptitudes in children with and without autism (Parker et al. 2014).”
From A precision medicine approach to oxytocin trials (2017) · cites this paper as Parker et al. 2014
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Citations
Cites
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Lipid-Related Pathophysiology of ASD
Noah, K. K., & Tierney, E. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_8
Multi-dimensional social relationships shape social attention in monkeys
Liu, S., Huang, J., Chen, S., Platt, M. L., & Yang, Y. T. (2025) · eLife · doi:10.1101/2024.11.06.622326
Mozaicul neurochimic şi neurobiologic al autismului
Istrate, B. M. (2024) · Pediatru ro · doi:10.26416/pedi.75.3.2024.10285
Multi-dimensional social relationships shape social attention in monkeysPreprint
Liu, S., Huang, J., Chen, S., Platt, M. L., & Yang, Y. T. (2025) · eLife · doi:10.7554/elife.104460.1
Multi-dimensional social relationships shape social attention in monkeysPreprint
Liu, S., Huang, J., Chen, S., Platt, M. L., & Yang, Y. T. (2025) · eLife · doi:10.7554/elife.104460.2
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Cortés, T. G., Sida-Godoy, C., Cruz, J. H. S., Rosales-González, C. C., Ríos, M. M. G. M., Gutiérrez-Contreras, E., Espino-Silva, P. K., & Flores, P. R. (2026) · Genetic Testing and Molecular Biomarkers · doi:10.1177/19450265261417995
“…et al. (2019), although various polymorphisms in the OXTR and AVPR1 genes are frequent in ASD cases, it is likely that the risk or protection is because of different haplotypes rather than a single variant, which may explain the heterogeneity observed in various studies (Parker et al., 2014).”
New regulators in oxytocin and vasopressin release : role of the endolysosomal two-pore channels
Martucci, L. L. (2021) · theses.fr (ABES) · doi:10.70675/027d1ae2zd2ebz4677za019ze6ccd94cafe9
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“MC-C is the guarantor.”
Genetic Characterization of MAOA and OXTR in Western Lowland Gorillas ( Gorilla gorilla gorilla )
Mueller‐Hill, H., & Taglialatela, J. P. (2026) · American Journal of Primatology · doi:10.1002/ajp.70173
“Another SNP (rs2254298) also located in the third intron, has been implicated in social cognition, with carriers of at least one A allele (AA or AG) generally displaying lower levels of sociality than GG homozygotes (Parker et al. 2014; Liu et al. 2010; Jacob et al. 2007).”
Yuan, E., & Wang, Z. (2026) · Current Psychology · doi:10.1007/s12144-026-09648-8
“And given the additive effects of oxytocin system genes on social functioning (Parker et al., 2014 ), a MGPS which reflects the cumulative number of alleles associated with higher brain oxytocin levels may predict brain oxytocin levels through additive genetic effects.”
Bussies, P. L., Tan, Z., Shelestak, J., Sarn, N., Lee, J. H., Sadler, T. M., Eng, C., Louveau, A., & DeSilva, T. M. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107559
Metadata
- Authors
- Parker, K. J., Garner, J. P., Libove, R. A., Hyde, S. A., Hornbeak, K. B., Carson, D. S., Liao, C.-P., Phillips, J. M., Hallmayer, J. F., & Hardan, A. Y.
- Affiliations
- Department of Psychiatry and Behavioral Sciences and
- Stanford Medicine (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2014-08-04
- Volume
- 111
- Issue
- 33
- Pages
- 12258-12263
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC4143031
- OpenAlex
- W2093926419
- Cited by
- 215
- References
- 51
- Citations by year
- 2026: 6 · 2025: 12 · 2024: 10 · 2023: 14 · 2022: 23 · 2021: 22 · 2020: 20 · 2019: 18 · 2018: 24 · 2017: 24 · 2016: 19 · 2015: 21 · 2014: 2
- FWCI
- 32.60
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (RR 000167, P51RR000167)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- oxytocin, oxytocin receptor, autism spectrum disorder, OXTR polymorphisms, rs53576, rs2254298, social dysfunction, theory of mind, social communication, affect recognition, heritability, biomarkers, children
- MeSH terms
- Child, Child Development Disorders, Pervasive, Child, Preschool, Female, Humans, Male, Oxytocin, Phenotype, Polymorphism, Genetic, Social Behavior, Case-Control Studies, Receptors, Oxytocin
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