2011 Fiscal Year Final Research Report
Identification of susceptibility gene for lumbar disc disease and clarification of its molecular pathogenesis
| Project/Area Number |
21249080
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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 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)
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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, 特別研究員 (60415081)
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| Project Period (FY) |
2009 – 2011
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| 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 |
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| 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.
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Research Products
(23 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 K, Mannikko M, Mizuta H, Ikegawa S
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Journal Title
J Bone Miner Res
Volume: 24(9)
Pages: 1537-1543
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[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
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