The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study
Abstract
Introduction Previous studies showed the association of Autism Spectrum Disorder (ASD) and oxytocin receptor (OXTR) gene. We aimed to explore the OXTR gene single nucleotide polymorphisms (SNPs) across the ASD severity categories based on DSM-5.Method The whole encoding regions of the human OXTR gene were sequenced to identify the SNPs in 100 Turkish children with ASD. Genotypes of detected SNPs were also compared with the Childhood Autism Rating Scale (CARS) scores.Results Disease severity of the patients carrying GA and AA genotypes (GA/AA) of rs237902 were found more severe compared to those carrying GG genotype (χ 2 = 6.456, df = 2, p = .040). This finding was more powerful in boys (χ 2 = 9.288, df = 2, p = .010). Similarly, GA/AA genotypes of rs237902 were found associated with higher CARS scores in boys (U = 650.5, r = 0.24, p = .021).Conclusion Significant relationship between the ASD severity categories of DSM-5 and rs237902 was shown for the first time.
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Polymorphisms in the human OXTR gene are significantly associated with an ASD diagnosis and/or predict the severity of ASD.
“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 [12]
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Self-citation
- Authors
- Ocakoğlu, F. T., Köse, S., Özbaran, B., & Onay, H.
- Affiliations
- Ege University (TR)
- Corresponding author
- Ocakoğlu, Fevzi Tuna
- Venue
- Asian Journal of Psychiatry
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 31
- Pages
- 142-149
- ISSN
- 1876-2018 (ISSN-L)
- OpenAlex
- W2791518993
- Cited by
- 23
- References
- 55
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 6 · 2021: 1 · 2020: 4 · 2019: 1 · 2018: 3
- FWCI
- 1.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Asian Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Coordinator Department of Ege University Scientific Research Projects (2016-TIP-025)
- 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 gene, oxytocin receptor, single nucleotide polymorphisms, disease severity, genetic association, Childhood Autism Rating Scale, sex differences, Turkish children
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Child, Child, Preschool, Female, Humans, Male, Severity of Illness Index, Sex Factors, Turkey, Receptors, Oxytocin, Polymorphism, Single Nucleotide
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