Cited by 170Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder

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Campbell, Daniel B., Datta, Dibyadeep, Jones, Shaine T., Batey Lee, Evon, Sutcliffe, James S., Hammock, Elizabeth A. D., Levitt, Pat·2011·Journal of Neurodevelopmental Disorders

Abstract

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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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
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
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
  • Social Sciences › Psychology › Social Psychology › 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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