Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population

Authors

  • Jun Egawa MD, PhD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Department of Pediatric Psychiatry, Center for Transdisciplinary Research, Niigata, Japan
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  • Yuichiro Watanabe MD, PhD,

    Corresponding author
    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Division of Medical Education, Comprehensive Medical Education Center, School of Medicine, Faculty of Medicine, Niigata, Japan
    • Correspondence: Yuichiro Watanabe, MD, PhD, Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Chuo-ku, Niigata 951-8510, Japan. Email: yuichiro@med.niigata-u.ac.jp

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  • Masako Shibuya MD, PhD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Health Administration Center, Headquarters for Health Administration, Niigata University, Niigata, Japan
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  • Taro Endo MD, PhD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Atsunori Sugimoto MD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Hirofumi Igeta MD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Ayako Nunokawa MD, PhD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Oojima Hospital, Niigata, Japan
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  • Emiko Inoue MD,

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Toshiyuki Someya MD, PhD

    1. Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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Abstract

Aims

The oxytocin receptor (OXTR) is implicated in the pathophysiology of autism spectrum disorder (ASD). A recent study found a rare non-synonymous OXTR gene variation, rs35062132 (R376G), associated with ASD in a Japanese population. In order to investigate the association between rare non-synonymous OXTR variations and ASD, we resequenced OXTR and performed association analysis with ASD in a Japanese population.

Methods

We resequenced the OXTR coding region in 213 ASD patients. Rare non-synonymous OXTR variations detected by resequencing were genotyped in 213 patients and 667 controls.

Results

We detected three rare non-synonymous variations: rs35062132 (R376G/C), rs151257822 (G334D), and g.8809426G>T (R150S). However, there was no significant association between these rare non-synonymous variations and ASD.

Conclusions

Our present study does not support the contribution of rare non-synonymous OXTR variations to ASD susceptibility in the Japanese population.

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