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

Research Project

Project/Area Number 21249080
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  独立行政法人理化学研究所, 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, 特別研究員 (60415081)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥47,710,000 (Direct Cost: ¥36,700,000、Indirect Cost: ¥11,010,000)
Fiscal Year 2011: ¥12,740,000 (Direct Cost: ¥9,800,000、Indirect Cost: ¥2,940,000)
Fiscal Year 2010: ¥12,740,000 (Direct Cost: ¥9,800,000、Indirect Cost: ¥2,940,000)
Fiscal Year 2009: ¥22,230,000 (Direct Cost: ¥17,100,000、Indirect Cost: ¥5,130,000)
Keywords脊椎脊髄病学 / 腰椎椎間板ヘルニア / 相関解析 / 遺伝子 / 分子病態 / SNP / 椎間板ヘルニア
Research Abstract

In collaboration with expert spinal surgeons in Japan, we collected~ 1, 600 samples from patients with lumbar disc herniation(LDH). We analyzed their clinical and radiographic phenotypes in detail and established clinical database for LDH. Using these samples and data, we performed various genetic analyses(candidate gene approach based on expression profile and computer-prediction, and genome-wide association study) and identified several highly associated SNPs for LDH susceptibility, including those in genes involved in development of vertebral disc and proteoglycan metabolism.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (43 results)

All 2012 2011 2010 2009 Other

All Journal Article (4 results) (of which Peer Reviewed: 1 results) Presentation (32 results) Remarks (7 results)

  • [Journal Article] 一塩基多型を用いた大規模症例・対照相関解析による腰椎椎間板ヘルニアの原因遺伝子解析2011

    • Author(s)
      池川志郎
    • Journal Title

      Journal of Spine Research

      Volume: 2(9)

    • Related Report
      2011 Final Research Report
  • [Journal Article] TGF-βファミリーと骨・関節疾患2010

    • Author(s)
      池川志郎
    • Journal Title

      実験医学

      Volume: 29 Pages: 883-887

    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [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 K, Mannikko M, Mizuta H, Ikegawa S
    • Journal Title

      J Bone Miner Res

      Volume: 24(9) Pages: 1537-1543

    • Related Report
      2011 Final Research Report
  • [Journal Article] Association of the tag SNPs in the human SKT Gene(KIAA1217)with lumbar disc herniation2009

    • Author(s)
      Karasugi T
    • Journal Title

      J Bone Miner Res 24(9)

      Pages: 1537-1543

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Next steps for genetic study of skeletal diseases-problems and solutions from 10 years' experience2012

    • Author(s)
      Ikegawa S
    • Organizer
      Symposium on Developmental Genomics and Genetics Disorders
    • Place of Presentation
      Hong Kong, China
    • Year and Date
      2012-01-17
    • Related Report
      2011 Final Research Report
  • [Presentation] Next steps for genetic study of skeletal diseases-problems and solutions from 10 years' experience2012

    • Author(s)
      Ikegawa Shiro
    • Organizer
      Symposium on Developmental Genomics and Genetics Disorders
    • Place of Presentation
      Hong Kong, China(招待講演)
    • Year and Date
      2012-01-17
    • Related Report
      2011 Annual Research Report
  • [Presentation] ゲノム科学による疾患研究2012

    • Author(s)
      池川志郎
    • Organizer
      早稲田大学講義先端生命医科学特論イノベーティブディスカバリー
    • Place of Presentation
      早稲田大学生命医科学センター(東京都)
    • Year and Date
      2012-01-13
    • Related Report
      2011 Final Research Report
  • [Presentation] ゲノム科学による疾患研究2012

    • Author(s)
      池川志郎
    • Organizer
      早稲田大学講義先端生命医科学特論イノベーティブディスカバリー
    • Place of Presentation
      早稲田大学生命医科学センター(東京都)(招待講演)
    • Year and Date
      2012-01-13
    • Related Report
      2011 Annual Research Report
  • [Presentation] 疾患遺伝子研究の現状と未来:骨・関節疾患を例に2011

    • Author(s)
      池川志郎
    • Organizer
      徳島大学「次世代シーケンサーを用いた最先端研究」講演会
    • Place of Presentation
      徳島大学医学部(徳島県)
    • Year and Date
      2011-08-26
    • Related Report
      2011 Final Research Report
  • [Presentation] 疾患遺伝子研究の現状と未来:骨・関節疾患を例に2011

    • Author(s)
      池川志郎
    • Organizer
      徳島大学「次世代シーケンサーを用いた最先端研究」講演会
    • Place of Presentation
      徳島大学医学部(徳島県)(招待講演)
    • Year and Date
      2011-08-26
    • Related Report
      2011 Annual Research Report
  • [Presentation] ゲノムから医療へ、創薬ヘ:相関解析により同定された骨・関節の生活習慣病の原因遺伝子(疾患感受性遺伝子)に関する知見・知財の臨床応用に向けての課題の克服2011

    • Author(s)
      池川志郎
    • Organizer
      次世代医療システム産業化フォーラム招待講演
    • Place of Presentation
      シティプラザ大阪(大阪府)
    • Year and Date
      2011-07-08
    • Related Report
      2011 Final Research Report
  • [Presentation] ゲノムから医療へ、創薬へ:相関解析により同定された骨・関節の生活習慣病の原因遺伝子(疾患感受性遺伝子)に関する知見・知財の臨床応用に向けての課題の克服2011

    • Author(s)
      池川志郎
    • Organizer
      次世代医療システム産業化フォーラム
    • Place of Presentation
      シティプラザ大阪(大阪府)(招待講演)
    • Year and Date
      2011-07-08
    • Related Report
      2011 Annual Research Report
  • [Presentation] Genomic analysis of osteoarthritis-From patient to gene, from genome to molecular pathogenesis2011

    • Author(s)
      Ikegawa S
    • Organizer
      1st Symposium of the Asia Pacific League of Associations for Rheumatology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2011-04-16
    • Related Report
      2011 Final Research Report
  • [Presentation] Genomic analysis of osteoarthritis-From patient to gene, from genome to molecular pathogenesis2011

    • Author(s)
      Ikegawa Shiro
    • Organizer
      1st Symposium of the Asia Pacific League of Associations for Rheumatology
    • Place of Presentation
      Taipei, Taiwan(招待講演)
    • Year and Date
      2011-04-16
    • Related Report
      2011 Annual Research Report
  • [Presentation] Genomic study of Bone and Joint Diseases using human and mouse genetics2010

    • Author(s)
      Ikegawa S
    • Organizer
      10th Annual meeting of the EAUHG(East Asian Union of Human Genetics Societies)
    • Place of Presentation
      Jinan, China
    • Year and Date
      2010-10-08
    • Related Report
      2011 Final Research Report
  • [Presentation] Genomic study of Bone and Joint Diseases using human and mouse genetics2010

    • Author(s)
      Ikegawa S
    • Organizer
      10th Annual meeting of the EAUHG (East Asian Union of Human Genetics Societies)
    • Place of Presentation
      Jinan, China
    • Year and Date
      2010-10-08
    • Related Report
      2010 Annual Research Report
  • [Presentation] From genome to skeletal diseases-recent advances in the association study of osteoarthritis and lumbar disc herniation2010

    • Author(s)
      Ikegawa S
    • Organizer
      1st OARSI China Forum
    • Place of Presentation
      Nanjing, China
    • Year and Date
      2010-10-05
    • Related Report
      2011 Final Research Report
  • [Presentation] From genome to skeletal diseases- recent advances in the association study of osteoarthritis and lumbar disc herniation2010

    • Author(s)
      Ikegawa S
    • Organizer
      1st OARSI China Forum
    • Place of Presentation
      Nanjing, China
    • Year and Date
      2010-10-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒト遺伝学を出発点とする運動器疾患研究2010

    • Author(s)
      池川志郎
    • Organizer
      第11回運動器科学研究会
    • Place of Presentation
      長野県・軽井沢
    • Year and Date
      2010-09-10
    • Related Report
      2010 Annual Research Report
  • [Presentation] ゲノムから疾患へ-ヒト遺伝学(Human Genetics)を出発点とする疾患遺伝子と分子病態の解明2010

    • Author(s)
      池川志郎
    • Organizer
      京都大学再生医科学研究所第1回生命医科学セミナー
    • Place of Presentation
      京都
    • Year and Date
      2010-09-07
    • Related Report
      2011 Final Research Report
  • [Presentation] ゲノムから疾患へ-ヒト遺伝学(Human Genetics)を出発点とする疾患遺伝子と分子病態の解明2010

    • Author(s)
      池川志郎
    • Organizer
      京都大学再生医科学研究所 第1回生命医科学セミナー
    • Place of Presentation
      京都
    • Year and Date
      2010-09-07
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒト遺伝学を出発点とする運動器疾患研究2010

    • Author(s)
      池川志郎
    • Organizer
      第11回運動器科学研究会
    • Place of Presentation
      軽井沢,長野
    • Year and Date
      2010-09-01
    • Related Report
      2011 Final Research Report
  • [Presentation] From genome to skeletal diseases-recent advances in the association study of osteoarthritis and lumbar disc herniation and its association with ECM biology2010

    • Author(s)
      Ikegawa S
    • Organizer
      Gordon Conference(Proteoglican)
    • Place of Presentation
      New Hampshire, USA
    • Year and Date
      2010-07-14
    • Related Report
      2011 Final Research Report
  • [Presentation] From genome to skeletal diseases- recent advances in the association study of osteoarthritis and lumbar disc herniation and its association with ECM biology2010

    • Author(s)
      Ikegawa S
    • Organizer
      Gordon Conference (Proteoglican)
    • Place of Presentation
      New Hampshire, USA
    • Year and Date
      2010-07-14
    • Related Report
      2010 Annual Research Report
  • [Presentation] 遺伝学を用いた骨・関節疾患へのアプローチ2010

    • Author(s)
      池川志郎
    • Organizer
      第5回Skeletal Research Meeting
    • Place of Presentation
      京都
    • Year and Date
      2010-06-12
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Genomic Analysis of Bone and Joint Diseases-Integrated Approach of Human & Mouse Genetics Toward Disease Genes & Molecular Pathogenesis of the Diseases2010

    • Author(s)
      Ikegawa S
    • Organizer
      The Fourth Margaret River Region Forum
    • Place of Presentation
      Duns borough, Australia
    • Year and Date
      2010-04-29
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Genetic study of lumbar disc diseases2010

    • Author(s)
      Ikegawa S
    • Organizer
      The 3rd Jishuitan Orthopedics Forum
    • Place of Presentation
      Beijing, China
    • Year and Date
      2010-04-24
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] 骨・関節疾患のゲノム解析2009

    • Author(s)
      池川志郎
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Related Report
      2011 Final Research Report
  • [Presentation] 骨・関節疾患のゲノム解析2009

    • Author(s)
      池川志郎
    • Organizer
      日本人類遺伝学会第54回大会
    • 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] Common polymorphisms and risk for degenerative joiny diseases in human populations2009

    • Author(s)
      Ikegawa S
    • Organizer
      9th Biennial Meeting of International Skeletal Dysplasia Society
    • Place of Presentation
      Boston, USA
    • Year and Date
      2009-07-19
    • Related Report
      2011 Final Research Report 2009 Annual Research Report
  • [Presentation] From Mouse to Human, from Monogenic to Polygenic Disease2009

    • Author(s)
      Ikegawa S
    • Organizer
      Gordon Research Conference Catrilage Biology & Pathology
    • Place of Presentation
      Les Diablerets, Switzerland
    • Year and Date
      2009-06-08
    • Related Report
      2011 Final Research Report
  • [Presentation] From Mouse to Human, from Monogenic to Polygenic Disease2009

    • Author(s)
      池川志郎
    • Organizer
      Gordon Research Conference Catrilage Biology & Pathology 2009
    • Place of Presentation
      Les Diablerets, Switzerland
    • Year and Date
      2009-06-08
    • Related Report
      2009 Annual Research Report
  • [Presentation] Integrated Approach toward Bone and Joint Diseases using Human and Mouse Genetics2009

    • Author(s)
      Ikegawa S
    • Organizer
      Yokosuka Science Festa 2009 (Joint Conference of 8th Pan-Pacific Connective Tissue Societies Symposium (PPCTSS), 41st Annual Meeting of the Japanese Society of Connective Tissue Research (JSCTR), and 56th Annual Meeting of the Japan Matrix Club (JMC) Concurrent Meeting: Yokosuka International Conference on Cancer Microenvironment (YICCM)).
    • Place of Presentation
      Yokosuka, Japan
    • Year and Date
      2009-06-04
    • Related Report
      2011 Final Research Report
  • [Presentation] Integrated Approach toward Bone & Joint Diseases using Human and Mouse Genetics2009

    • Author(s)
      池川志郎
    • Organizer
      Yokosuka Science Festa 2009(Joint Conference of 8th Pan-Pacific Connective Tissue Societies Symposium(PPCTSS), 41st Annual Meeting of the Japanese Society of Connective Tissue Research(JSCTR), and 56th Annual Meeting of the Japan Matrix Club(JMC)Concurrent Meeting : Yokosuka International Conference on Cancer Microenvironments(YICCM))
    • Place of Presentation
      Yokosuka(神奈川県)
    • Year and Date
      2009-06-04
    • Related Report
      2009 Annual Research Report
  • [Presentation] 骨関節疾患のゲノム解析-融合遺伝学アプローチによる疾患遺伝子の解明2009

    • Author(s)
      池川志郎
    • Organizer
      第14回Bone Research Joint Meeting
    • Place of Presentation
      大阪
    • Year and Date
      2009-05-26
    • Related Report
      2011 Final Research Report
  • [Presentation] 骨関節疾患のゲノム解析-融合遺伝学アプローチによる疾患遺伝子の解明2009

    • Author(s)
      池川志郎
    • Organizer
      第14回 Bone Research Joint Meeting
    • Place of Presentation
      大阪
    • Year and Date
      2009-05-26
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://www.riken.go.jp/

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://www.riken.go.jp/

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://www.riken.go.jp/

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2009 Annual Research Report

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

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