The DOI matches its Crossref record; 61 of the 62 references it cites were found in a registry or an index.
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder
Open accessAbstract
Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families.
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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 [9]
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Cites
Oxytocin increases trust in humans
Kosfeld, M., Heinrichs, M., Zak, P. J., Fischbacher, U., & Fehr, E. (2005) · Nature · doi:10.1038/nature03701 · Cited by 3,690 · cited 2×
“In humans, there have been a number of recent studies demonstrating enhanced functions relevant to social behavior following oxytocin application in healthy adults (Heinrichs et al. 2003; Kosfeld et al. 2005; Rimmele et al. 2009; Zak et al. 2007; Domes et al. 2007a; Domes et al. 2007b; Guastella et al. 2008a; Guastell…”
BackgroundInfluentialAutism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461 · cited 2×
“Despite a widely varying clinical presentation, ASD is highly heritable, with studies demonstrating a concordance rate of 80–95% in monozygotic twins and 0–31% in dizygotic twins (Folstein and Rutter 1977; Ritvo et al. 1985; Bailey et al. 1995; Le Couteur et al. 1996; Taniai et al. 2008; Rosenberg et al. 2009).”
BackgroundHeinrichs, M., Baumgartner, T., Kirschbaum, C., & Ehlert, U. (2003) · Biological Psychiatry · doi:10.1016/s0006-3223(03)00465-7 · Cited by 2,091 · cited 2×
“In humans, there have been a number of recent studies demonstrating enhanced functions relevant to social behavior following oxytocin application in healthy adults (Heinrichs et al. 2003; Kosfeld et al. 2005; Rimmele et al. 2009; Zak et al. 2007; Domes et al. 2007a; Domes et al. 2007b; Guastella et al. 2008a; Guastell…”
BackgroundInfluentialAutism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421 · cited 2×
“Similarly, although genome-wide copy number variation analyses have not highlighted OXTR (Glessner et al. 2009), a recent report described deletion of the region including OXTR, CAV3, and three neighboring genes in a single proband in one of 119 families (Gregory et al.”
BackgroundSelf-citationOxytocin improves “mind-reading” in humans
Domes, G., Heinrichs, M., Michel, A., Berger, C., & Herpertz, S. C. (2007) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.07.015 · Cited by 1,298 · cited 1×
“…enhanced functions relevant to social behavior following oxytocin application in healthy adults (Heinrichs et al. 2003; Kosfeld et al. 2005; Rimmele et al. 2009; Zak et al. 2007; Domes et al. 2007a; Domes et al. 2007b; Guastella et al. 2008a; Guastella et al. 2008b; Hurlemann et al. 2010).”
BackgroundInfluentialSocial amnesia in mice lacking the oxytocin gene
Ferguson, J. N., Young, L. J., Hearn, E. F., Matzuk, M. M., Insel, T. R., & Winslow, J. T. (2000) · Nature Genetics · doi:10.1038/77040 · Cited by 1,130 · cited 2×
“OXT facilitates social recognition behavior (Ferguson et al. 2000) and modulates maternal behavior (Pedersen and Prange 1979; Kendrick et al.”
BackgroundCommon genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · cited 4×
“1 (Wang et al. 2009), 5p15 (Weiss et al.”
BackgroundInfluentialSelf-citationIntranasal oxytocin improves emotion recognition for youth with autism spectrum disorders.
Guastella, A. J., Einfeld, S. L., Gray, K. M., Rinehart, N. J., Tonge, B. J., Lambert, T. J., & Hickie, I. B. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.09.020 · Cited by 962 · cited 1×
“Intravenous or intranasal applications of OXT in youth (Guastella et al. 2010) and adult (Hollander et al. 2007; Hollander et al. 2003; Andari et al. 2010) cohorts with ASD generally improved various functions relevant to social behavior.”
BackgroundPromoting social behavior with oxytocin in high-functioning autism spectrum disorders.
Andari, E., Duhamel, J.-R., Zalla, T., Herbrecht, E., Leboyer, M., & Sirigu, A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910249107 · Cited by 941 · cited 2×
“2010) and adult (Hollander et al. 2007; Hollander et al. 2003; Andari et al. 2010) cohorts with ASD generally improved various functions relevant to social behavior.”
BackgroundPedersen, C. A., & Prange, A. J. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.12.6661 · Cited by 841
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Dumais, K. M., & Veenema, A. H. (2016) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2015.04.003 · Cited by 520
“VP and OT systems have been implicated in sex-biased psychiatric disorders of social dysfunction, such as autism spectrum disorder and schizophrenia(Green et al., 2001; Wu et al., 2005; Jacob et al., 2007; Campbell et al., 2011; Miller et al., 2013; Di Napoli et al., 2014; Golimbet et al., 2014; Jobst et al., 2014).”
BackgroundThe impact of atypical sensory processing on social impairments in autism spectrum disorder
Thye, M. D., Bednarz, H. M., Herringshaw, A. J., Sartin, E. B., & Kana, R. K. (2018) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2017.04.010 · Cited by 513
“…and alterations in: the gene that encodes the oxytocin receptor, OXTR, (Ebstein et al., 2009; Hammock and Levitt, 2006), in oxytocin receptors (Campbell et al., 2011; Liu et al., 2010; Skuse et al., 2014; Wermter et al., 2010; Wu et al., 2005), and in epigenetic mechanisms (Gregory et al.,…”
Autism, oxytocin and interoception
Quattrocki, E., & Friston, K. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.09.012 · Cited by 393
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
LoParo, D., & Waldman, I. D. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.77 · Cited by 343
The contributions of oxytocin and vasopressin pathway genes to human behavior
Ebstein, R. P., Knafo, A., Mankuta, D., Chew, S. H., & Lai, P. S. (2012) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.12.014 · Cited by 283
Metadata
- Authors
- Campbell, D. B., Datta, D., Jones, S. T., Batey Lee, E., Sutcliffe, J. S., Hammock, E. A. D., & Levitt, P.
- Affiliations
- University of Southern California (US)
- Vanderbilt University (US)
- Corresponding author
- Campbell, Daniel B.
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2011-01-06
- Volume
- 3
- Issue
- 2
- Pages
- 101-112
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC3113442
- OpenAlex
- W2016290219
- Cited by
- 170
- References
- 62
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 4 · 2023: 8 · 2022: 7 · 2021: 5 · 2020: 10 · 2019: 10 · 2018: 12 · 2017: 11 · 2016: 14 · 2015: 14 · 2014: 22 · 2013: 15 · 2012: 22
- FWCI
- 10.89
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Vanderbilt University
- National Institute of Mental Health (R01MH080759, T32MH065215)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, oxytocin receptor, genetic association, social behavior, oxytocin signaling, family-based association
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