Cited by 195Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Liu, Xiaoxi, Kawamura, Yoshiya, Shimada, Takafumi, Otowa, Takeshi, Koishi, Shinko, Sugiyama, Toshiro, Nishida, Hisami, Hashimoto, Ohiko, Nakagami, Ryoichi, Tochigi, Mamoru, Umekage, Tadashi, Kano, Yukiko, Miyagawa, Taku, Kato, Nobumasa, Tokunaga, Katsushi, Sasaki, Tsukasa·2010·Journal of Human Genetics

DOI 10.1038/jhg.2009.140

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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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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: Liu, Xiaoxi
Shimada, Takafumi
Otowa, Takeshi
Sugiyama, Toshiro
Hashimoto, Ohiko
Tochigi, Mamoru
Kano, Yukiko
Miyagawa, Taku
Tokunaga, Katsushi
Sasaki, Tsukasa
Venue: Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-01-22
Volume: 55
Issue: 3
Pages: 137-141
ISSN: 1434-5161 (ISSN-L)
1435-232X
DOI: 10.1038/jhg.2009.140
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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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

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