Identification of susceptibility gene for lumbar disc herniation and clarification of its molecular pathogenesis
| Project/Area Number |
19209049
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Orthopaedic surgery
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| Research Institution | The Institute of Physical and Chemical Research |
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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)
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| 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)
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| Project Period (FY) |
2007 – 2008
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| Project Status |
Completed (Fiscal Year 2008)
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| 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)
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| 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 |
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| 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。
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Report
(3 results)
Research Products
(24 results)
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[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
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Journal Title
J Bone Miner Res (Epub ahead of print)
Pages: 0-0
Related Report
Peer Reviewed
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[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
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Journal Title
Am J Hum Genet 82(5)
Pages: 1122-9
Related Report
Peer Reviewed
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[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
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Journal Title
Am J Hum Genet 82(3)
Pages: 744-7
Related Report
Peer Reviewed
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[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.
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Journal Title
Am J Hum Genet (in press)
Related Report
Peer Reviewed
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[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
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Journal Title
Am J Hum Genet 81(6)
Pages: 1271-7
Related Report
Peer Reviewed
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[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.
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Journal Title
Am J Hum Genet 81
Pages: 1271-1277
Related Report
Peer Reviewed
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