Cited by 164Neuroendocrine regulation and behaviorAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Association Between the Oxytocin Receptor Gene and Amygdalar Volume in Healthy Adults

Inoue, Hideyuki, Yamasue, Hidenori, Tochigi, Mamoru, Abe, Osamu, Liu, Xiaoxi, Kawamura, Yoshiya, Takei, Kunio, Suga, Motomu, Yamada, Haruyasu, Rogers, Mark A., Aoki, Shigeki, Sasaki, Tsukasa, Kasai, Kiyoto·2010·Biological Psychiatry

DOI 10.1016/j.biopsych.2010.07.019

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Abstract

Background Recent studies have suggested that oxytocin affects social cognition and behavior mediated by the oxytocin receptor (OXTR) in amygdala in humans as well as in experimental animals. Genetic studies have revealed a link between the OXTR gene and the susceptibility to autism spectrum disorders (ASD), especially in the social dysfunctional feature of ASD.Methods We examined the relationship between amygdala volume measured with manual tracing methodology and seven single nucleotide polymorphisms and one haplotype-block in OXTR, which were previously reported to be associated with ASD, in 208 socially intact Japanese adults with no neuropsychiatric history or current diagnosis.Results The rs2254298A allele of OXTR was significantly associated with larger bilateral amygdala volume. The rs2254298A allele effect on amygdala volume varied in proportion to the dose of this allele. The larger the number of rs2254298A alleles an individual had, the larger their amygdala volume. Such an association was not observed with hippocampal volume or with global brain volumes, including whole gray, white matter, and cerebrospinal-fluid space. Furthermore, two three-single nucleotide polymorphism haplotypes, including rs2254298G allele, showed significant associations with the smaller bilateral amygdala volume.Conclusions The present results suggest that OXTR might be associated with the susceptibility to ASD, especially in its aspects of social interaction and communication mediated by a modulation of amygdala development, one of the most distributed brain regions with high density of OXTR. Furthermore, amygdala volume measured with magnetic resonance imaging could be a useful intermediate phenotype to uncover the complex link between OXTR and social dysfunction in ASD.

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Authors: Inoue, H., Yamasue, H., Tochigi, M., Abe, O., Liu, X., Kawamura, Y., Takei, K., Suga, M., Yamada, H., Rogers, M. A., Aoki, S., Sasaki, T., & Kasai, K.
Affiliations: The University of Tokyo (JP)
Japan Science and Technology Agency (JP)
Corresponding author: Yamasue, Hidenori
ORCID: Yamasue, Hidenori
Tochigi, Mamoru
Abe, Osamu
Liu, Xiaoxi
Rogers, Mark A.
Aoki, Shigeki
Sasaki, Tsukasa
Kasai, Kiyoto
Venue: Biological Psychiatry
Publisher: Elsevier BV
Published: 2010-12
Volume: 68
Issue: 11
Pages: 1066-1072
ISSN: 0006-3223 (ISSN-L)
DOI: 10.1016/j.biopsych.2010.07.019
OpenAlex: W1983037600
Cited by: 164
References: 63
Citations by year: 2026: 2 · 2025: 2 · 2024: 4 · 2023: 8 · 2022: 4 · 2021: 4 · 2020: 10 · 2019: 11 · 2018: 9 · 2017: 12 · 2016: 14 · 2015: 14 · 2014: 14 · 2013: 17 · 2012: 25
FWCI: 24.05
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Biological Psychiatry (publishedVersion)
PubMed (publishedVersion)
Funders: Ministry of Health, Labour, and Welfare
JSPS/MEXT (20023009, 21249064, 08105853)
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 receptor gene, oxytocin receptor, amygdala volume, autism spectrum disorder, single nucleotide polymorphisms, rs2254298, haplotypes, genetic susceptibility, social dysfunction, endophenotypes, amygdala development, healthy adults
MeSH terms: Adult, Age Factors, Alleles, Amygdala, Analysis of Variance, Female, Gene Frequency, Genotype, Haplotypes, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Organ Size, Receptors, Oxytocin, Polymorphism, Single Nucleotide, Genetic Association Studies

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Association Between the Oxytocin Receptor Gene and Amygdalar Volume in Healthy Adults

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