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

腰椎间盘疾病致病基因分析及椎间盘退变分子机制研究

基本信息

项目摘要

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.
腰椎间盘疾病是年轻人的常见问题。尽管病因尚不清楚,但有人认为遗传因素导致了这些疾病的发生。最近,发现一些基因多态性是相关的。我们检查了几种遗传多态性与腰椎间盘疾病之间的关联。我们前期研究发现聚集蛋白聚糖基因第12号外显子中较短的VNTR(可变串联重复序列)和维生素D受体基因(VDR基因)第9号外显子中的Tt多态性与早年腰椎间盘退变和椎间盘突出呈正相关。我们与理化学研究所 (RIKEN)、庆应义塾大学和京都府立大学合作收集了 800 多个样本。我们检查了先前文献中显示为因果基因的其他候选基因,并确认我们的样本中不存在关联。然而,我们发现COL9A2的单倍型与腰椎间盘疾病之间呈正相关。此外,我们发现基因 X 具有很强的关联性。 X基因编码关节软骨和椎间盘的结构成分。我们还研究了该基因如何成为椎间盘疾病致病因素的机制。包括这些结果的论文很快将发表在一些科学期刊上。

项目成果

期刊论文数量(40)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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
腰椎间盘疾病易感性相关基因分析 基于椎间盘退变分子机制的治疗
  • DOI:
  • 发表时间:
    2004
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Seki S;Kawaguchi Y;et al.;川口善治 他
  • 通讯作者:
    川口善治 他
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)
Kawaguchi Y 等:“腰椎间盘疾病与维生素 D 受体基因多态性的关联”J Bone Joint Surg Am。
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    0
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The association of lumbar disc disease with vitamin-D receptor gene polymorphism
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease
  • DOI:
    10.1038/ng1557
  • 发表时间:
    2005-06-01
  • 期刊:
  • 影响因子:
    30.8
  • 作者:
    Seki, S;Kawaguchi, Y;Ikegawa, S
  • 通讯作者:
    Ikegawa, S
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)
Yoshiharu Kawaguchi,Tomoatsu Kimura:“腰椎病的遗传学方法”现代医学 34. 557-561 (2002)。
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KAWAGUCHI Yoshiharu其他文献

KAWAGUCHI Yoshiharu的其他文献

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{{ truncateString('KAWAGUCHI Yoshiharu', 18)}}的其他基金

Analysis of serum biomarkers in patients with spinal ossification
脊柱骨化症患者血清生物标志物分析
  • 批准号:
    16K10815
  • 财政年份:
    2016
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Detection of the mechanism for bone formation and treatment in patients with ossification of the posterior longitudinal ligament
后纵韧带骨化症患者骨形成机制的检测及治疗
  • 批准号:
    22591628
  • 财政年份:
    2010
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Involvement of defective reversible-acetylation of non-histone proteins in mood disorders
非组蛋白的可逆乙酰化缺陷与情绪障碍有关
  • 批准号:
    21500364
  • 财政年份:
    2009
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
A Study of LiQi's Poetry : On Poems Describing High Tang Literati
李期诗歌研究:论盛唐文人诗
  • 批准号:
    20520336
  • 财政年份:
    2008
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Piediction of spinal cord function by transcranial magnetic evoked compound muscle action potential and spinal cord potential
经颅磁诱发复合肌肉动作电位和脊髓电位对脊髓功能的预测
  • 批准号:
    09671477
  • 财政年份:
    1997
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)

相似海外基金

Establishment of the treatment and pathophysiology based on the susceptibility gene in lumbar disc disease.
建立基于腰椎间盘疾病易感基因的治疗方法和病理生理学。
  • 批准号:
    22791365
  • 财政年份:
    2010
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Young Scientists (B)
Identification of susceptibility gene for lumbar disc disease and clarification of its molecular pathogenesis
腰椎间盘疾病易感基因的鉴定及其分子发病机制的阐明
  • 批准号:
    21249080
  • 财政年份:
    2009
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (A)
Analysis of CILP (cartilage intermediate layer protein ) transgenic mice with lumbar disc disease susceptibility
CILP(软骨中间层蛋白)转基因小鼠腰椎间盘疾病易感性分析
  • 批准号:
    18689903
  • 财政年份:
    2006
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Young Scientists (A)
Molecular and cellular approaches to the treatment of degenerative lumbar disc disease
治疗退行性腰椎间盘疾病的分子和细胞方法
  • 批准号:
    17591595
  • 财政年份:
    2005
  • 资助金额:
    $ 1.98万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
SURGICALLY TREATED LUMBAR DISC DISEASE
手术治疗的腰椎间盘疾病
  • 批准号:
    3969613
  • 财政年份:
  • 资助金额:
    $ 1.98万
  • 项目类别:
SURGICALLY TREATED LUMBAR DISC DISEASE
手术治疗的腰椎间盘疾病
  • 批准号:
    4697527
  • 财政年份:
  • 资助金额:
    $ 1.98万
  • 项目类别:
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