Cited by 50Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations

Montag, Christian, Sindermann, Cornelia, Melchers, Martin, Jung, Sonja, Luo, Ruixue, Becker, Benjamin, Xie, Jiang, Xu, Wenming +2 more·2017·American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Abstract

There is increasing evidence for associations between polymorphisms of the oxytocin receptor (OXTR) gene and autism spectrum disorder, but to date no study has established links with autistic traits in healthy subjects and potential cultural differences. The present research firstly investigated associations between three widely studied OXTR SNPs and autistic and empathic traits (rs53576 (G/A); rs2254298 (G/A); rs2268498 (T/C)) in two independent studies on male and female Caucasian (n = 537) and Chinese students (n = 280). Autistic and empathic traits were measured in all subjects in the two independent groups using the Autism -Spectrum Quotient (AQ) and the Interpersonal Reactivity Index (IRI) respectively, together with their sub-scales. For both sites, genotyping of the OXTR SNPs was conducted on buccal swab samples using a Cobas Z 480 Light Cycler following automated DNA extraction. Associations at the genotype level with autism trait scores were found in Caucasian subjects for rs2268498 only, with TT carriers having the lowest AQ scores compared with those carrying at least one C-allele. This finding was independently replicated in the Chinese sample although a smaller proportion carried the C-allele compared with the Caucasian sample. Some minor associations were found between empathy trait scores and the three SNPs but were not consistent between the samples. These findings show for the first time that the rs2268498 SNP localized in the promoter flanking region of the OXTR gene is associated with autistic traits in different ethnic/cultural groups. This provides further support for the role of the OXTR gene in relation to autism.

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Crossref · 10.1002/ajmg.b.32596

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Authors
Montag, C., Sindermann, C., Melchers, M., Jung, S., Luo, R., Becker, B., Xie, J., Xu, W., Guastella, A. J., & Kendrick, K. M.
Affiliations
  • University of Electronic Science and Technology of China (CN)
  • Universität Ulm (DE)
  • University of Bonn (DE)
  • Third People's Hospital of Chengdu (CN)
  • Chinese University of Hong Kong (HK)
  • The University of Sydney (AU)
Corresponding author
  • Montag, Christian
  • Kendrick, Keith M.
Venue
American Journal of Medical Genetics Part B Neuropsychiatric Genetics
Publisher
Wiley
Published
2017-10-13
Volume
174
Issue
8
Pages
808-816
ISSN
  • 1552-4841 (ISSN-L)
  • 1552-485X
OpenAlex
W2763124390
Cited by
50
References
40
Citations by year
2026: 2 · 2025: 1 · 2024: 4 · 2023: 1 · 2022: 5 · 2021: 4 · 2020: 10 · 2019: 8 · 2018: 14 · 2017: 1
FWCI
5.18
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Natural Science Foundation of China (31530032)
  • Deutsche Forschungsgemeinschaft (MO 2363/2‐1, MO 2363/3‐1)
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, autistic traits, empathy, single nucleotide polymorphisms, promoter, rs53576, rs2254298, genetic association, ethnic differences, Caucasian population, Chinese population
MeSH terms
Adult, Alleles, Autistic Disorder, Female, Genotype, Humans, Male, Linkage Disequilibrium, Case-Control Studies, Receptors, Oxytocin, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, White People, Asian People, Young Adult

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