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Searching for susceptibility genes in narcolepsy, and the therapeutic application

Research Project

Project/Area Number 21790336
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionThe University of Tokyo

Principal Investigator

MIYAGAWA Taku  The University of Tokyo, 大学院・医学系研究科, 助教 (20512263)

Project Period (FY) 2009 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywordsゲノム医科学 / ナルコレプシー / ゲノムワイド関連解析 / Replication Study / 睡眠 / アシルカルニチン / カルニチン / 脂肪酸β酸化 / CPT1B / 真性過眠症候群 / CHKB / TCRA / HLA / SNP
Research Abstract

Using a new approach that consists of a combination of genome-wide association studies (GWAS) and an extensive database search for narcolepsy candidate genes, we picked up 202 candidate genes and then performed a replication study in narcolepsy. As a result, six genes (NFATC2、SCP2、CACNA1C、TCRA/DAD1、POLE and FAM3D) were found to be significantly associated with narcolepsy. In addition, we measured carnitine fractions in narcoleptics and healthy individuals to test the hypothesis that fatty acid beta-oxidation is altered in narcolepsy. The acylcarnitine levels were abnormally low in 21% of the narcoleptics while those of all the controls were within the normal range.

Report

(3 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • Research Products

    (33 results)

All 2011 2010 2009 Other

All Journal Article (12 results) (of which Peer Reviewed: 10 results) Presentation (16 results) Book (4 results) Remarks (1 results)

  • [Journal Article] Abnormally low serum acylcarnitine levels in narcolepsy patients.2011

    • Author(s)
      Miyagawa T, Miyadera H, Tanaka S, Kawashima M, Shimada M, Honda Y, Tokunaga K, Honda M.
    • Journal Title

      Sleep 34(3)

      Pages: 349-353

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Abnormally low serum acylcarnitine levels in narcolepsy patients2011

    • Author(s)
      宮川卓, 他
    • Journal Title

      Sleep

      Volume: 34(3) Pages: 349-353

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype.2010

    • Author(s)
      Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K.
    • Journal Title

      Journal of Human Genetics 55(1)

      Pages: 63-65

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] An approach based on a genome-wide association study reveals candidate loci for narcolepsy.2010

    • Author(s)
      Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K.
    • Journal Title

      Human Genetics 128(4)

      Pages: 433-441

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy.2010

    • Author(s)
      Toyoda H, Tanaka S, Miyagawa T, Honda Y, Tokunaga K, Honda M.
    • Journal Title

      Sleep 33(7)

      Pages: 875-878

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] An approach based on a genome-wide association study reveals candidate loci for narcolepsy2010

    • Author(s)
      嶋多美穂子, 他
    • Journal Title

      Human Genetics

      Volume: 128(4) Pages: 433-441

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy2010

    • Author(s)
      豊田裕美, 他
    • Journal Title

      Sleep

      Volume: 33(7) Pages: 875-878

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype2010

    • Author(s)
      宮川卓, 他
    • Journal Title

      Journal of Human Genetics 55

      Pages: 63-65

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).2009

    • Author(s)
      Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K.
    • Journal Title

      PloS ONE 4(4)

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Narcolepsy.2009

    • Author(s)
      Miyagawa T, Tokunaga K.
    • Journal Title

      MHC 16(1)

      Pages: 39-48

    • Related Report
      2010 Final Research Report
  • [Journal Article] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias(essential hypersomnia)2009

    • Author(s)
      宮川卓, 他
    • Journal Title

      PLoS ONE 4(4)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Narcolepsy2009

    • Author(s)
      宮川卓、徳永勝士
    • Journal Title

      MHC 16(1)

      Pages: 39-48

    • Related Report
      2009 Annual Research Report
  • [Presentation] Abnormally low serum acylcarnitine levels in narcolepsy patients.2010

    • Author(s)
      宮川卓
    • Organizer
      The American Society of Human Genetics Annual Meeting.
    • Place of Presentation
      Washington Convention Center (Washington DC, USA)
    • Year and Date
      2010-11-05
    • Related Report
      2010 Final Research Report
  • [Presentation] Abnormally low serum acylcarnitine levels in narcolepsy patients2010

    • Author(s)
      宮川卓, 他
    • Organizer
      The American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      2010-11-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] ナルコレプシー患者における血中アシルカルニチン異常低値2010

    • Author(s)
      宮川卓
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティ(埼玉県 さいたま市)
    • Year and Date
      2010-10-29
    • Related Report
      2010 Final Research Report
  • [Presentation] ナルコレプシー患者における血中アシルカルニチン異常低値2010

    • Author(s)
      宮川卓, 他
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティ(埼玉県さいたま市)
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] ナルコレプシー患者における血中アシルカルニチン異常低値2010

    • Author(s)
      宮川卓
    • Organizer
      日本組織適合性学会
    • Place of Presentation
      東京大学医学部教育研究棟(東京都 文京区)
    • Year and Date
      2010-09-18
    • Related Report
      2010 Final Research Report
  • [Presentation] ナルコレプシー患者における血中アシルカルニチン異常低値2010

    • Author(s)
      宮川卓, 他
    • Organizer
      日本組織適合性学会
    • Place of Presentation
      東京大学医学部教育研究棟(東京都文京区)
    • Year and Date
      2010-09-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] Genetic variants in CPT1B/CHKB and TCRA are associated with CNS hypersomnias (essential hypersomnia) other than narcolepsy with cataplexy.2010

    • Author(s)
      宮川卓
    • Organizer
      Associated Professional Sleep Societies.
    • Place of Presentation
      Henry B. Gonzalez Convention Center (San Antonio, USA)
    • Year and Date
      2010-06-08
    • Related Report
      2010 Final Research Report
  • [Presentation] Genetic variants in CPT1B/CHKB and TCRA are associated with CNS hypersomnias (essential hypersomnia) other than narcolepsy with cataplexy2010

    • Author(s)
      宮川卓, 他
    • Organizer
      Associated Professional Sleep Societies
    • Place of Presentation
      San Antonio, USA
    • Year and Date
      2010-06-08
    • Related Report
      2010 Annual Research Report
  • [Presentation] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).2009

    • Author(s)
      宮川卓
    • Organizer
      The American Society of Human Genetics Annual Meeting.
    • Place of Presentation
      Hawaii Convention Center (Honolulu, USA)
    • Year and Date
      2009-10-22
    • Related Report
      2010 Final Research Report
  • [Presentation] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias(essential hypersomnia)2009

    • Author(s)
      宮川卓, 他
    • Organizer
      The American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Honolulu, USA
    • Year and Date
      2009-10-22
    • Related Report
      2009 Annual Research Report
  • [Presentation] 真性過眠症候群を対象としたHLA-DRB1*1501-DQB1*0602ハプロタイプとCPT1B遺伝子およびCHKB遺伝子の間に位置する多型の関連解析2009

    • Author(s)
      宮川卓
    • Organizer
      日本組織適合性学会
    • Place of Presentation
      名古屋国際会議場(愛知県 名古屋市)
    • Year and Date
      2009-09-26
    • Related Report
      2010 Final Research Report
  • [Presentation] 真性過眠症候群を対象としたHLA-DRB1*1501-DQB1*0602ハプロタイプとCPT1B遺伝子およびCHKB遺伝子の間に位置する多型の関連解析2009

    • Author(s)
      宮川卓, 他
    • Organizer
      日本組織適合性学会
    • Place of Presentation
      名古屋名古屋国際会議場
    • Year and Date
      2009-09-26
    • Related Report
      2009 Annual Research Report
  • [Presentation] 真性過眠症候群を対象としたCPT1B遺伝子及びCHKB遺伝子の間に位置する多型とHLA-DRB1*1501-DQB1*0602ハプロタイプの関連解析2009

    • Author(s)
      宮川卓
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      グランドプリンスホテル高輪(東京都 港区)
    • Year and Date
      2009-09-24
    • Related Report
      2010 Final Research Report
  • [Presentation] 真性過眠症候群を対象としたCPT1B遺伝子及びCHKB遺伝子の間に位置する多型とHLA-DRB1*1501-DQB1*0602ハプロタイプの関連解析2009

    • Author(s)
      宮川卓, 他
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京 グランドプリンスホテル高輪
    • Year and Date
      2009-09-24
    • Related Report
      2009 Annual Research Report
  • [Presentation] Genome-wide association study identifies a susceptibility variant for narcolepsy.2009

    • Author(s)
      宮川卓
    • Organizer
      Associated Professional Sleep Societies.
    • Place of Presentation
      Washington State Convention and Trade Center (Seattle, USA)
    • Year and Date
      2009-06-08
    • Related Report
      2010 Final Research Report
  • [Presentation] Genome-wide association study identifies a susceptibility variant for narcolepsy2009

    • Author(s)
      宮川卓, 他
    • Organizer
      Associated Professional Sleep Societies
    • Place of Presentation
      Seattle, USA
    • Year and Date
      2009-06-08
    • Related Report
      2009 Annual Research Report
  • [Book] 医学のあゆみ ナルコレプシーとHLAおよびT細胞レセプター2010

    • Author(s)
      宮川卓
    • Publisher
      医歯薬出版株式会社
    • Related Report
      2010 Annual Research Report
  • [Book] 分子精神医学 注目の遺伝子 ナルコレプシーの原因遺伝子2009

    • Author(s)
      宮川卓、徳永勝士
    • Publisher
      先端医学社
    • Related Report
      2009 Annual Research Report
  • [Book] メディカル・サイエンス・ダイジェストGWASの基礎と実際2009

    • Author(s)
      宮川卓
    • Publisher
      ニューサイエンス社
    • Related Report
      2009 Annual Research Report
  • [Book] 医学のあゆみ ナルコレプシーのゲノムワイド関連解析2009

    • Author(s)
      宮川卓、徳永勝士
    • Publisher
      医歯薬出版株式会社
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.humgenet.m.u-tokyo.ac.jp/member/miyagawa.html

    • Related Report
      2009 Annual Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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