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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
Abstract
The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.
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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 [10]
In the citing paper
“Only Caucasian individuals were eligible for study participation based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg, & Van Iljezdoorn, 2014; Heyn, et al., 2013; Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Liu et al., 2010
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“Being the first adult developmental examination into this topic, we held race/ethnicity constant to only Caucasian participants based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg & Van Iljezdoorn, 2014, Heyn, et al., 2013, Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Liu et al., 2010
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Metadata
- Authors
- Liu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., Umekage, T., Kano, Y., Miyagawa, T., Kato, N., Tokunaga, K., & Sasaki, T.
- Affiliations
- The University of Tokyo (JP)
- University of Tokyo Hospital (JP)
- Aino University (JP)
- SHOWA Medical University (JP)
- Corresponding author
- Sasaki, Tsukasa
- ORCID
- Venue
- Journal of Human Genetics
- Published
- 2010-01-22
- Volume
- 55
- Issue
- 3
- Pages
- 137-141
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2044009124
- Cited by
- 195
- References
- 31
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 13 · 2022: 6 · 2021: 3 · 2020: 10 · 2019: 4 · 2018: 10 · 2017: 11 · 2016: 19 · 2015: 19 · 2014: 25 · 2013: 18 · 2012: 21
- FWCI
- 12.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- 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
- oxytocin receptor, autism spectrum disorder, single nucleotide polymorphisms, rs2254298, haplotype association, genetic susceptibility, Japanese population, family-based association test
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Family, Female, Gene Frequency, Genetic Markers, Haplotypes, Humans, Japan, Male, Linkage Disequilibrium, Receptors, Oxytocin, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People
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