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Analysis of causative gene for lumbar disc disease and investigation of molecular mechanism for interverteral disc degeneration

Research Project

Project/Area Number 14571364
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthopaedic surgery
Research InstitutionToyama Medical and Pharmaceutical University

Principal Investigator

KAWAGUCHI Yoshiharu  Toyama Medical & Pharmaceutical University, Department of Orthopedic Surgery, Lecturer, 医学部, 助手 (00262527)

Co-Investigator(Kenkyū-buntansha) ISHIHARA Hirokazu  Toyama Medical & Pharmaceutical University, Department of Orthopedic Surgery, Lecturer, 附属病院, 講師 (30242499)
OSADA Ryusuke  Toyama Medical & Pharmaceutical University, Department of Orthopedic Surgery, Assistant Prof., 附属病院, 助手 (40293310)
Project Period (FY) 2002 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2004: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 2003: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2002: ¥1,600,000 (Direct Cost: ¥1,600,000)
KeywordsLumbar disc herniation / Lumbar disc disease / Genetic polymorphism / Case-control study / Vitamin-D receptor gene / Aggrecan gene / IX collagen gene / PCR / 患者-対照相関解析 / 腰椎椎間板変性 / 遺伝的素因 / 遺伝子 / COL9A2 / COL9A3 / MMP-3 / ハプロタイプ / PCR / 制限酵素 / エストロゲンレセプター遺伝子 / TGF-β1遺伝子
Research Abstract

Lumbar disc diseases are common problems in the young population. Although the etiology is unknown, it has been suggested that a genetic factor contributes to the development of these diseases. Recently, some genetic polymorphisms have been found to be related. We have examined the association between several genetic polymorphisms and lumbar disc diseases. Our previous studies found that the shorter VNTR (variable number of tandem repeat) in Exon 12 of aggrecan gene and the Tt polymorphism in Exon 9 of vitamin D receptor gene (VDR gene) have the positive association with lumbar disc degeneration and disc herniation in an early age. We collected more than 800 samples in cooperation with The Institute of Physical and Chemical Research (RIKEN), Keio University and Kyoto prefectural Univerisity. We examined other candidate genes which were shown as causal genes in previous literatures and confirmed that there were no association in our samples. However, we found the positive association between the haplotype of COL9A2 and lumbar disc diseases. Further, we found that the gene X had a strong association. The gene X codes the structural component of joint cartilage and intervertebral disc. We also examined the mechanism how the gene becomes a causative factor in disc disease. The paper including these results will be published in some scientific journal soon.

Report

(4 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • 2002 Annual Research Report
  • Research Products

    (20 results)

All 2005 2004 2003 2002 2000 1999 Other

All Journal Article (15 results) Publications (5 results)

  • [Journal Article] A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.2005

    • Author(s)
      Seki S, Kawaguchi Y, et al.
    • Journal Title

      Nature Genetics (Online)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] A functional SNP in CLIP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.2005

    • Author(s)
      Seki S, Kawaguchi Y, et al.
    • Journal Title

      Nat genet online Journal

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 腰椎椎間板疾患の素因に関わる遺伝子解析.シンポジウム椎間板変性の分子メカニズムから治療2004

    • Author(s)
      川口善治, 他
    • Journal Title

      日整会誌 78

      Pages: 918-922

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] A haplotype of COL9A2 is associated with lumbar disc diseases.2004

    • Author(s)
      Seki S, Kawaguchi Y, et al.
    • Journal Title

      Spineweek Proceedings Porto, Portugal 6

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 腰椎椎間板疾患の素因に関わる遺伝子解析 椎間板変性の分子メカニズムから治療2004

    • Author(s)
      川口善治 他
    • Journal Title

      日本整形外科学会雑誌 78

      Pages: 918-922

    • Related Report
      2004 Annual Research Report
  • [Journal Article] A haplotype of COL9A2 is associated with lumbar disc diseases.2004

    • Author(s)
      Seki S, et al.
    • Journal Title

      Spineweek Proceedings

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Association of a polymorphism of the transforming growth factor-β1 gene with the radiological characteristic of ossification of the posterior longitudinal ligament.2003

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      Spine 28

      Pages: 1424-1426

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Association of a polymorphism of the transforming growth factor-β1 gene with the radio logical characteristic of ossification of the posterior longitudinal ligament2003

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      Spine 28

      Pages: 1424-1426

    • Related Report
      2004 Annual Research Report
  • [Journal Article] 腰痛症への遺伝子学的アプローチ2002

    • Author(s)
      川口善治, 木村友厚
    • Journal Title

      現代医療増刊 34

      Pages: 57-61

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] The association of lumbar disc disease with vitamin-D receptor gene polymorphism2002

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      J Bone Joint Surg Am 84

      Pages: 2022-2028

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Annual Research Report 2004 Final Research Report Summary
  • [Journal Article] The association of lumbar disc disease with vitamin-D receptor gene polymorphism.2002

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      J Bone Joint Surg Am 84

      Pages: 2022-2028

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 腰痛症への遺伝子学的アプローチ2002

    • Author(s)
      川口善治 他
    • Journal Title

      現代医療増刊 1・34

      Pages: 57-61

    • Related Report
      2004 Annual Research Report
  • [Journal Article] アグリカン遺伝子多型から見た腰椎椎間板変性および椎間板ヘルニア発症のリスク2000

    • Author(s)
      川口善治, 他
    • Journal Title

      日本腰痛学会雑誌 6

      Pages: 6-12

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] An association between an aggrecan gene polymorphism and lumbar disc disease1999

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      Spine 24

      Pages: 2456-2460

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] An association between an aggrecan gene polymorphism and lumbar disc disease.1999

    • Author(s)
      Kawaguchi Y, et al.
    • Journal Title

      Spine 24

      Pages: 2456-2460

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] Kawaguchi Y, et al.: "The association of lumbar disc disease with vitamin-D receptor gene polymorphism"J Bone Joint Surg Am. 84. 2022-2028 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] Sugimori K, et al.: "High-sensitivity analysis of serum C-reactive protein (CRP) in young patients with lumber disc herniation"J Bone Joint Surg Br. 85. 1151-1154 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 関 庄二 他: "腰椎椎間板ヘルニアの遺伝的要因"整形外科. 55. 125-131 (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] 川口善治, 木村友厚: "腰椎症への遺伝子的アプローチ"現代医療. 34. 557-561 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] Kawaguchi Y, et al.: "The assosiation of lumbar disc disease with vitamin-D receptor gene polymorphism"J Bone Joint Surg Am. 84. 2022-2028 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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