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ID 118531
Title Alternative
CNVs in Three Psychiatric Disorders
Kushima, Itaru Nagoya University
Nakatochi, Masahiro Nagoya University
Aleksic, Branko Nagoya University
Okada, Takashi Nagoya University|National Center of Neurology and Psychiatry
Kimura, Hiroki Nagoya University
Kato, Hidekazu Nagoya University
Morikawa, Mako Nagoya University
Inada, Toshiya Nagoya University
Ishizuka, Kanako Nagoya Institute of Technology
Torii, Youta Nagoya University
Nakamura, Yukako Nagoya University
Tanaka, Satoshi National Hospital Organization Higashi Owari National Hospital|National Hospital Organization Nagoya Medical Center
Imaeda, Miho Nagoya University
Takahashi, Nagahide Nagoya University
Yamamoto, Maeri Nagoya University
Iwamoto, Kunihiro Nagoya University
Nawa, Yoshihiro Nagoya University
Ogawa, Nanayo Nagoya University
Iritani, Shuji Nagoya University|Okehazama Hospital
Hayashi, Yu Nagoya University
Lo, Tzuyao Nagoya University
Otgonbayar, Gantsooj Nagoya University
Furuta, Sho Nagoya University
Iwata, Nakao Fujita Health University
Ikeda, Masashi Fujita Health University
Saito, Takeo Fujita Health University
Ninomiya, Kohei Fujita Health University
Okochi, Tomo Fujita Health University
Hashimoto, Ryota National Institute of Mental Health National Center of Neurology and Psychiatry
Yamamori, Hidenaga National Institute of Mental Health National Center of Neurology and Psychiatry|Osaka University|Japan Community Health Care Organization Osaka Hospital
Yasuda, Yuka National Institute of Mental Health National Center of Neurology and Psychiatry|Medical Corporation Foster
Fujimoto, Michiko National Institute of Mental Health National Center of Neurology and Psychiatry|Osaka University
Miura, Kenichiro National Institute of Mental Health National Center of Neurology and Psychiatry
Itokawa, Masanari Tokyo Metropolitan Institute of Medical Science|Tokyo Metropolitan Matsuzawa Hospital
Arai, Makoto Tokyo Metropolitan Institute of Medical Science
Miyashita, Mitsuhiro Tokyo Metropolitan Institute of Medical Science|Tokyo Metropolitan Matsuzawa Hospital|Takatsuki Hospital
Toriumi, Kazuya Tokyo Metropolitan Institute of Medical Science
Ohi, Kazutaka Gifu University|Kanazawa Medical University
Shioiri, Toshiki Gifu University
Kitaichi, Kiyoyuki Gifu Pharmaceutical University
Someya, Toshiyuki Niigata University
Watanabe, Yuichiro Niigata University
Egawa, Jun Niigata University
Takahashi, Tsutomu University of Toyama
Suzuki, Michio University of Toyama
Sasaki, Tsukasa University of Tokyo
Tochigi, Mamoru Teikyo University
Nishimura, Fumichika University of Tokyo
Yamasue, Hidenori Hamamatsu University School of Medicine
Kuwabara, Hitoshi Hamamatsu University School of Medicine
Wakuda, Tomoyasu Hamamatsu University School of Medicine
Kato, Takahiro A. Kyushu University
Kanba, Shigenobu Japan Depression Center|Kyushu University
Horikawa, Hideki Kyushu University|Horikawa Hospital
Usami, Masahide Kohnodai Hospital
Kodaira, Masaki Aiiku Clinic
Watanabe, Kyota Hiroshima City Center for Children’s Health and Development
Yoshikawa, Takeo RIKEN
Toyota, Tomoko RIKEN
Yokoyama, Shigeru Kanazawa University
Munesue, Toshio Kanazawa University
Kimura, Ryo Kyoto University
Funabiki, Yasuko Kyoto University
Kosaka, Hirotaka University of Fukui
Jung, Minyoung University of Fukui|Korea Brain Research Institute
Kasai, Kiyoto University of Tokyo
Ikegame, Tempei University of Tokyo
Jinde, Seiichiro University of Tokyo
Kato, Tadafumi Juntendo University
Kakiuchi, Chihiro Juntendo University
Yamakawa, Kazuhiro Nagoya City University
Suzuki, Toshimitsu Nagoya City University
Hashimoto, Naoki Hokkaido University
Ishikawa, Shuhei Hokkaido University
Yamagata, Bun Keio University
Nio, Shintaro Saiseikai Central Hospital
Murai, Toshiya Kyoto University
Son, Shuraku Kyoto University
Kunii, Yasuto Tohoku University|Fukushima Medical University
Yabe, Hirooki Fukushima Medical University
Inagaki, Masumi Tottori Prefecture Rehabilitation Center
Goto, Yu-ichi National Center of Neurology and Psychiatry
Okumura, Yuto Nagoya University
Ito, Tomoya Nagoya University
Arioka, Yuko Nagoya University
Mori, Daisuke Nagoya University
Ozaki, Norio Nagoya University
Content Type
Journal Article
BACKGROUND: We aimed to determine the similarities and differences in the roles of genic and regulatory copy number variations (CNVs) in bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD).
METHODS: Based on high-resolution CNV data from 8708 Japanese samples, we performed to our knowledge the largest cross-disorder analysis of genic and regulatory CNVs in BD, SCZ, and ASD.
RESULTS: In genic CNVs, we found an increased burden of smaller (<100 kb) exonic deletions in BD, which contrasted with the highest burden of larger (>500 kb) exonic CNVs in SCZ/ASD. Pathogenic CNVs linked to neurodevelopmental disorders were significantly associated with the risk for each disorder, but BD and SCZ/ASD differed in terms of the effect size (smaller in BD) and subtype distribution of CNVs linked to neurodevelopmental disorders. We identified 3 synaptic genes (DLG2, PCDH15, and ASTN2) as risk factors for BD. Whereas gene set analysis showed that BD-associated pathways were restricted to chromatin biology, SCZ and ASD involved more extensive and similar pathways. Nevertheless, a correlation analysis of gene set results indicated weak but significant pathway similarities between BD and SCZ or ASD (r = 0.25–0.31). In SCZ and ASD, but not BD, CNVs were significantly enriched in enhancers and promoters in brain tissue.
CONCLUSIONS: BD and SCZ/ASD differ in terms of CNV burden, characteristics of CNVs linked to neurodevelopmental disorders, and regulatory CNVs. On the other hand, they have shared molecular mechanisms, including chromatin biology. The BD risk genes identified here could provide insight into the pathogenesis of BD.
Journal Title
Biological Psychiatry
Society of Biological Psychiatry|Elsevier
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This is an open access article under the CC BY-NC-ND license(
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University Hospital
Medical Sciences