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Identification of susceptibility gene for lumbar disc herniation and clarification of its molecular pathogenesis

Research Project

Project/Area Number 19209049
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthopaedic surgery
Research InstitutionThe Institute of Physical and Chemical Research

Principal Investigator

IKEGAWA Shiro  The Institute of Physical and Chemical Research, 骨関節疾患研究チーム, チームリーダー (30272496)

Co-Investigator(Kenkyū-buntansha) FURUICHI Tatsuya  独立行政法人理化学研究所, 骨関節疾患 研究チーム, 上級研究員 (30392103)
INABA Ikuyo  独立行政法人理化学研究所, 骨関節疾患 研究チーム, リサーチアソシエイト (60415081)
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥40,300,000 (Direct Cost: ¥31,000,000、Indirect Cost: ¥9,300,000)
Fiscal Year 2008: ¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Fiscal Year 2007: ¥21,060,000 (Direct Cost: ¥16,200,000、Indirect Cost: ¥4,860,000)
Keywords骨・関節疾患 / 椎間板ヘルニア / 椎間板変性症 / 疾患感受性遺伝子 / 相関解析 分子病態 / 脊椎脊髄病学 / 腰椎椎間板ヘルニア / 相関解析 / COLIIA1 / アスポリン / アジア
Research Abstract

椎間板ヘルニアの発症機構、病態の分子レベルでの解明の為にその原因遺伝子(疾患感受性遺伝子)を同定し、同定した遺伝子、疾患感受性多型の機能解析を行なった。以下の成果を得た。1) 新規の原因遺伝子THBS2とMMP9を同定した。THBS2の感受性アレルでは、異常なスプライシングが起こり、細胞外基質分解酵素であるMMPとの結合が低下することを証明した。2) アスポリンのD14多型が椎間板変性症と相関することを発見した。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • Research Products

    (24 results)

All 2009 2008 2007 Other

All Journal Article (8 results) (of which Peer Reviewed: 8 results) Presentation (10 results) Remarks (3 results) Patent(Industrial Property Rights) (3 results) (of which Overseas: 1 results)

  • [Journal Article] Association of the tag SNPs in the human SKT Gene (KIAA1217) with lumbar disc herniation2009

    • Author(s)
      Karasugi T, Semba K, Hirose Y, Kelempisioti A, Nakajima M, Miyake A, Furuichi T, Kawaguchi Y, Mikami Y, Chiba K, Kamata M, Ozaki K, Takahashi A, Makela P, Karppinen J, Kimura T, Kubo T, Toyama Y, Yamamura KI, Mannikko M, Mizuta H, Ikegawa S
    • Journal Title

      J Bone Miner Res (Epub ahead of print)

      Pages: 0-0

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation2008

    • Author(s)
      Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S
    • Journal Title

      Am J Hum Genet 82(5)

      Pages: 1122-9

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of the asporin D14 allele with lumbar-disc degeneration in Asians2008

    • Author(s)
      Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D
    • Journal Title

      Am J Hum Genet 82(3)

      Pages: 744-7

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Functional polymotphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc disease2008

    • Author(s)
      Hirose Y, 他
    • Journal Title

      Am J Hum Genet 82

      Pages: 1122-1129

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of the Aspor in D14 allele with lumbar disc degeneration in Asians2008

    • Author(s)
      Song Y-Q, 他
    • Journal Title

      Am J Hum Genet 82

      Pages: 744-747

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of the Asporin D14 allele with lumbar disc degeneration in Asians.2008

    • Author(s)
      Song Y-Q, Cheung KMC, Ho DWH, Poon SCS, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AFY, Leong J CY, Luk KDK, Yip S-P, Karppinen J, Cheah KSE, Sham P, Ikegawa S, Chan D.
    • Journal Title

      Am J Hum Genet (in press)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation2007

    • Author(s)
      Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
    • Journal Title

      Am J Hum Genet 81(6)

      Pages: 1271-7

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] A functional polymorphism in COL11A1,which encodes the alpha 1 chain of type XI collagen,is associated with susceptibility to lumbar dischemiation.2007

    • Author(s)
      Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T. Kimura T, Toyama Y, Ikegawa S.
    • Journal Title

      Am J Hum Genet 81

      Pages: 1271-1277

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] 腰椎椎間板ヘルニアの全ゲノム相関解析2008

    • Author(s)
      唐杉 樹ほか
    • Organizer
      第23回 日本整形外科学会基礎学術集会
    • Place of Presentation
      京都
    • Year and Date
      2008-10-24
    • Related Report
      2008 Annual Research Report 2008 Final Research Report
  • [Presentation] From genome to bone and joint diseases2008

    • Author(s)
      池川 志郎
    • Organizer
      第13回アジア太平洋リウマチ学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-10-08
    • Related Report
      2008 Final Research Report
  • [Presentation] 腰椎椎間板ヘルニアの全ゲノム相関解析2008

    • Author(s)
      唐杉樹, ほか
    • Organizer
      第53回 日本人類遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-28
    • Related Report
      2008 Annual Research Report
  • [Presentation] Genetic analysis of bone and joint diseases; From human, from mouse2008

    • Author(s)
      池川 志郎
    • Organizer
      5th Bone Biology Forum
    • Place of Presentation
      静岡
    • Year and Date
      2008-08-22
    • Related Report
      2008 Final Research Report
  • [Presentation] From Human, from Mouse: Integrated approach of human and mouse genetics toward the gene for bone and joint diseases2008

    • Author(s)
      池川 志郎
    • Organizer
      The 17th International Rheumatology Symposium
    • Place of Presentation
      札幌
    • Year and Date
      2008-04-22
    • Related Report
      2008 Final Research Report
  • [Presentation] 腰椎椎間板ヘルニアの全ゲノム相関解析2008

    • Author(s)
      唐杉 樹ほか
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      横浜
    • Related Report
      2008 Final Research Report
  • [Presentation] From Genome to Disease, Gene to Medicine: Identification of susceptibility genes for common bone and joint diseases and clarification of molecular pathogenesis2007

    • Author(s)
      池川 志郎
    • Organizer
      THE INDIAN SOCIETY OF DEVELOPMENTAL BIOLOGISTS (ISDB)
    • Place of Presentation
      Agra,India
    • Year and Date
      2007-10-18
    • Related Report
      2008 Final Research Report
  • [Presentation] From Genome to Disease,Gene to Medicine:Identification of susceptibility genes for common bone and joint diseases and clarification of molecular pathogenesis.2007

    • Author(s)
      Ikegawa S.
    • Organizer
      The Indian Society of Developmental Biologists(ISDB)
    • Place of Presentation
      Conference Room,Hotel Holiday Inn,Agra India.
    • Year and Date
      2007-10-18
    • Related Report
      2007 Annual Research Report
  • [Presentation] 骨・関節疾患のゲノム解析.疾患感受性遺伝子の同定から医療へ2007

    • Author(s)
      池川 志郎
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-14
    • Related Report
      2008 Final Research Report
  • [Presentation] Unraveling the genetic basis of common bone and joint diseases2007

    • Author(s)
      池川 志郎
    • Organizer
      The 8th Regional Osteoporosis Conference
    • Place of Presentation
      HongKong
    • Year and Date
      2007-05-20
    • Related Report
      2008 Final Research Report
  • [Remarks] ホームページ

    • URL

      http://www.riken.go.jp/lab-www/OA-team/index.html

    • Related Report
      2008 Final Research Report
  • [Remarks]

    • URL

      http://www.riken.jp/lab-www/OA-team/index.html

    • Related Report
      2008 Annual Research Report
  • [Remarks]

    • URL

      http://www.riken.jp/lab-www/OA-team/index.html

    • Related Report
      2007 Annual Research Report
  • [Patent(Industrial Property Rights)] 椎間板変性関連疾患感受性遺伝子およびその用途(トロンボスポンディン2遺伝子、マトリックスメタロプロテアーゼ2遺伝子、及びマトリックスメタロプロテアーゼ9遺伝子による椎間板変性症、及び椎間板ヘルニアの疾患感受性の診断と治療)2008

    • Inventor(s)
      池川志郎
    • Industrial Property Rights Holder
      理化学研究所
    • Filing Date
      2008-09-30
    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 椎間板変性関連疾患感受性遺伝子およびその用途2008

    • Inventor(s)
      池川志郎
    • Industrial Property Rights Holder
      理化学研究所
    • Filing Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
    • Overseas
  • [Patent(Industrial Property Rights)] 椎間板変性関連疾患感受性遺伝子およびその用途(トロンボスポンディン2遺伝子、マトリックスメタロプロテアーゼ2遺伝子、及びマトリックスメタロプロテアーゼ9遺伝子による椎間板変性症、及び椎間板ヘルニアの疾患感受性の診断と治療)2007

    • Inventor(s)
      池川 志郎
    • Industrial Property Rights Holder
      独立行政法人理化学研究所
    • Industrial Property Number
      2007-257345
    • Filing Date
      2007-10-01
    • Related Report
      2007 Annual Research Report

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Published: 2007-04-01   Modified: 2016-04-21  

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