2013 Fiscal Year Final Research Report
Elucidation of molecular pathogenesis of amyotrophic lateral sclerosis based on genome analysis
| Project/Area Number |
23500433
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Nerve anatomy/Neuropathology
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| Research Institution | The Institute of Physical and Chemical Research |
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Principal Investigator |
IIDA ARITOSHI 独立行政法人理化学研究所, 統合生命医科学研究センター, 上級研究員 (10277585)
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| Project Period (FY) |
2011 – 2013
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| Keywords | ゲノム解析 / 筋萎縮性側索硬化症 / 感受性遺伝子 |
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| Research Abstract |
I employed several genetic approaches to understand the molecular pathogenesis of amyotrophic lateral sclerosis (ALS) more precisely. I identified two proteins (Z512BP-1 and Z512BP-2) as binding partners of ZNF512B. Case control association study showed that a SNP in Z512BP-1 is highly associated with susceptibility to ALS. In addition, I performed genome wide association studies (GWAS) and finally identified a total of 33 SNPs highly associated with ALS susceptibility. The associations between these SNPs and ALS require confirmation in further replication studies.
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Research Products
(12 results)
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[Journal Article] A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese2011
Author(s)
Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, Tanaka T, Tsunoda T, Oshima S, Sano M, Kamei T, Tokuda T, Aoki M, Hasegawa K, Mizoguchi K, Morita M, Takahashi Y, Katsuno M, Atsuta N, Watanabe H, Tanaka F, Kaji R, Nakano I, Kamatani N, Tsuji S, Sobue G, Nakamura Y, and Ikegawa S
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Journal Title
Human Molecular Genetics
Volume: 20
Pages: 3684-3692
Peer Reviewed
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[Journal Article] Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians2011
Author(s)
Iida A, Takahashi A, Deng M, Zhang Y, Wang J, Atsuta N, Tanaka F, Kamei T, Sano M, Oshima S, Tokuda T, Morita M, Akimoto C, Nakajima M, Kubo M, Kamatani N, Nakano I, Sobue G, Nakamura Y, Fan D, and Ikegawa S
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Journal Title
Neurobiology of Aging
Volume: 32
Pages: 757e13-757e14
DOI
Peer Reviewed
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[Presentation] 筋萎縮性側索硬化症におけるoptineurin遺伝子の欠失2012
Author(s)
飯田有俊, 細野直哉, 佐野元規, 亀井徹正, 大嶋秀一, 徳田虎雄, 中島正宏, 久保充明, 中村祐輔, 池川志郎
Organizer
日本人類遺伝学会第57回大会
Place of Presentation
新宿, 日本
Year and Date
2012-10-27
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[Presentation] 大規模ゲノム関連解析を用いた新規ALS感受性遺伝子の同定2011
Author(s)
飯田有俊, 高橋篤, 久保充明, 亀井徹正, 佐野元規, 大嶋秀一, 徳田虎雄, 青木正志, 梶龍兒, 中野今治, 辻省次, 祖父江元, 中村祐輔, 池川志郎
Organizer
第52回日本神経学会学術大会
Place of Presentation
名古屋, 日本
Year and Date
2011-05-18
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