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Genetic analysis of a large family with schizophrenia adopting ARMS and developmental disorder traits as intermediate phenotypes

Research Project

Project/Area Number 26461721
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Psychiatric science
Research InstitutionNagasaki University

Principal Investigator

IMAMURA Akira  長崎大学, 病院(医学系), 教授 (40325642)

Co-Investigator(Kenkyū-buntansha) 吉浦 孝一郎  長崎大学, 原爆後障害医療研究所, 教授 (00304931)
黒滝 直弘  長崎大学, 医歯薬学総合研究科(医学系), 准教授 (20423634)
小澤 寛樹  長崎大学, 医歯薬学総合研究科(医学系), 教授 (50260766)
Project Period (FY) 2014-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords統合失調症 / 大家系 / ARMS / 発達障害 / 自閉スペクトラム症 / 家系研究 / 次世代シーケンサー / 神経発達症群
Outline of Final Research Achievements

With the purpose of identifying rare risk variants for schizophrenia, we conducted a genetic analysis of a large family including many individuals with schizophrenia. Whole-exome analysis was performed in 10 individuals from this family. Target sequencing of two identified candidate genes was also performed in 288 individuals with schizophrenia and 419 healthy controls, narrowing the candidate gene pool to only gene A. In a behavioral analysis conducted using Gene A knock-in mice created using Crispr-cas9 technology, the genetically modified mice exhibited decreased activity or attenuated motor function.

Report

(5 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (24 results)

All 2018 2017 2016 2015 2014

All Journal Article (15 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 6 results,  Open Access: 3 results) Presentation (6 results) (of which Int'l Joint Research: 2 results) Book (3 results)

  • [Journal Article] Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Transl Psychiatry.2018

    • Author(s)
      Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.
    • Journal Title

      Transl Psychiatry

      Volume: 8 Issue: 1 Pages: 41-41

    • DOI

      10.1038/s41398-017-0088-0

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 精神科薬物療法pros and cons 子どものうつ病に対する支援と薬物療法 当診療部における薬物療法の工夫2018

    • Author(s)
      今村 明, 金替 伸治, 山本 直毅, 船本 優子, 田山 達之, 山口 尚宏, 黒滝 直弘, 小澤 寛樹
    • Journal Title

      臨床精神薬理

      Volume: 21 Pages: 103-106

    • NAID

      40021453946

    • Related Report
      2017 Annual Research Report
  • [Journal Article] 統合失調症と自閉スペクトラム症の遺伝子2018

    • Author(s)
      今村 明, 森本 芳郎, 黒滝 直弘, 金替 伸治, 山本 直毅, 船本 優子, 田山 達之, 山口 尚宏, 小澤 寛樹
    • Journal Title

      精神科

      Volume: 32 Pages: 258-264

    • Related Report
      2017 Annual Research Report
  • [Journal Article] De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity2017

    • Author(s)
      Nishi Akira、Numata Shusuke、Tajima Atsushi、Zhu Xiaolei、Ito Koki、Saito Atsushi、Kato Yusuke、Kinoshita Makoto、Shimodera Shinji、Ono Shinji、Ochi Shinichiro、Imamura Akira、Kurotaki Naohiro、Ueno Shu-ichi、Iwata Nakao、Fukui Kiyoshi、Imoto Issei、Kamiya Atsushi、Ohmori Tetsuro
    • Journal Title

      Scientific Reports

      Volume: 7 Issue: 1 Pages: 2887-2887

    • DOI

      10.1038/s41598-017-02792-z

    • NAID

      120006309984

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.2017

    • Author(s)
      Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.
    • Journal Title

      Hum Genome Var.

      Volume: 4 Issue: 1 Pages: 17032-17032

    • DOI

      10.1038/hgv.2017.32

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Characteristics of Inattention and Hyperactivity, Perception of General Health, and Reading Literacy of Japanese Adolescents: Results from a Large-scale Community Sample,2017

    • Author(s)
      Yamada S, Imamura A, Honda S, Iwanaga R, Shibuya K, Winnie D, Ozawa H,
    • Journal Title

      Acta medica Nagasakiensia

      Volume: 61 Pages: 71-79

    • NAID

      130006588815

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 精神病リスク状態(at-risk mental state)の概説2017

    • Author(s)
      今村 明, 金替 伸治, 山本 直毅, 船本 優子, 田山 達之, 山口 尚宏, 黒滝 直弘, 小澤 寛樹
    • Journal Title

      小児科

      Volume: 58 Pages: 679-686

    • NAID

      40021267611

    • Related Report
      2017 Annual Research Report
  • [Journal Article] 成人期に向けた支援 大人の発達障害(発達症)2017

    • Author(s)
      今村 明, 金替 伸治, 山本 直毅, 船本 優子, 田山 達之, 山口 尚宏, 黒滝 直弘, 小澤 寛樹
    • Journal Title

      小児科診療

      Volume: 80 Pages: 879-884

    • Related Report
      2017 Annual Research Report
  • [Journal Article] 児童思春期医師の立場から2016

    • Author(s)
      今村 明, 金替伸治, 山本直毅, 船本優子, 田山達之, 山口尚宏, 黒滝直弘, 小澤寛樹
    • Journal Title

      アスペハート

      Volume: 43 Pages: 48-53

    • Related Report
      2016 Research-status Report
  • [Journal Article] 大人の発達症(発達障害)2016

    • Author(s)
      今村 明, 金替伸治, 田山達之, 黒滝直弘, 小澤寛樹
    • Journal Title

      チャイルドヘルス

      Volume: 19 Pages: 45-49

    • Related Report
      2016 Research-status Report
  • [Journal Article] 精神科レクチャー1 ARMSについて2016

    • Author(s)
      今村 明
    • Journal Title

      日本小児心身医学会雑誌, 子どもの心とからだ

      Volume: 25 Pages: 415-416

    • Related Report
      2016 Research-status Report
  • [Journal Article] 大人の発達症(発達障害)2016

    • Author(s)
      今村明、金替伸治、田山達之、黒滝直弘、小澤寛樹
    • Journal Title

      チャイルド ヘルス

      Volume: 19 Pages: 45-48

    • Related Report
      2015 Research-status Report
  • [Journal Article] Factors affecting medication adherence in children receiving outpatient pharmacotherapy and parental adherence.2015

    • Author(s)
      Nagae M, Nakane H, Honda S, Ozawa H, Hanada H
    • Journal Title

      J Child Adolesc Psychiatr Nurs

      Volume: 28(2) Issue: 2 Pages: 109-117

    • DOI

      10.1111/jcap.12113

    • NAID

      120006987065

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Differential impacts of duration of untreated psychosis (DUP) on cognitive function in first-episode schizophrenia according to mode of onset2015

    • Author(s)
      Shinya Ito, Takahiro Nemoto, Naohisa Tsujino, Noriyuki Ohmuro, Kazunori Matsumoto, Hiroo Matsuoka, Kodai Tanaka, Shimako Nishiyama, Michio Suzuki, Hirohisa Kinoshita, Hiroki Ozawa, Hirokazu Fujita, Shinji Shimodera, Toshifumi Kishimoto, Kunichika Matsumoto, Tomonori Hasegawa, Masafumi Mizuno
    • Journal Title

      European Psychiatry

      Volume: 30 Issue: 8 Pages: 995-1001

    • DOI

      10.1016/j.eurpsy.2015.08.004

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] 成人の発達障害を支援するII 精神科外来での診断と支援2014

    • Author(s)
      今村明
    • Journal Title

      精神科臨床サービス

      Volume: 14 Pages: 395-401

    • Related Report
      2014 Research-status Report
  • [Presentation] 成人期ADHD発症のエピジェネティクス仮説, An epigenetic hypothesis for the onset of adult ADHD,2017

    • Author(s)
      今村 明, 金替 伸治, 山本 直毅, 船本 優子,田山 達之, 山口 尚宏,黒滝 直弘, 小澤 寛樹,
    • Organizer
      第113回日本精神神経学会学術総会シンポジウム
    • Related Report
      2017 Annual Research Report
  • [Presentation] 発達障害(発達症)の「障害」について2017

    • Author(s)
      今村 明
    • Organizer
      第113回日本精神神経学会学術総会,委員会シンポジウム9
    • Related Report
      2017 Annual Research Report
  • [Presentation] ADHD and the perceived reading weakness in Japanese adolescents (junior high school students)2016

    • Author(s)
      Yamada S, Honda S, Imamura A, Iwanaga R, Ozawa H
    • Organizer
      3rd Asian Congress on ADHD
    • Place of Presentation
      Singapore (Singapore)
    • Year and Date
      2016-05-26
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] The relationship between the social competence ob children and abults with Down’s syndrome and careguvers’burden.2016

    • Author(s)
      Kanako Morifuji, Hideyuki Nakane, Tatsuro Kondoh, Akira Imamura.
    • Organizer
      International Congress of Human Genetics
    • Place of Presentation
      国立京都国際会館(京都府・京都市)
    • Year and Date
      2016-04-04
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] 臨床場面での成人ADHDの診断について2015

    • Author(s)
      今村明
    • Organizer
      第25回日本臨床精神神経薬理学会
    • Place of Presentation
      東京、京王プラザホテル
    • Year and Date
      2015-10-29
    • Related Report
      2015 Research-status Report
  • [Presentation] 触法発達障害者の対応―外来の症例を中心に-2014

    • Author(s)
      今村明
    • Organizer
      第110回日本精神神経学会総会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-06-24 – 2014-06-28
    • Related Report
      2014 Research-status Report
  • [Book] 日常診療における精神療法 10分間で何ができるか2016

    • Author(s)
      今村明(共著、「おとなの発達症(発達障害)」の章を執筆)
    • Publisher
      星和書店
    • Related Report
      2016 Research-status Report
  • [Book] 日常診療における精神療法:10分間で何ができるか2016

    • Author(s)
      今村明(共著、「おとなの発達症(発達障害)」の章を執筆)
    • Total Pages
      10
    • Publisher
      星和書店
    • Related Report
      2015 Research-status Report
  • [Book] おとなの発達症のための医療系支援のヒント2014

    • Author(s)
      今村明
    • Total Pages
      221
    • Publisher
      星和書店
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2019-03-29  

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