Suseptible genes for essential blepharospasmus
Project/Area Number |
26462658
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Ophthalmology
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Research Institution | The University of Tokyo |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
澤村 裕正 東京大学, 医学部附属病院, 講師 (70444081)
馬淵 昭彦 東京大学, 大学院医学系研究科(医学部), 准教授 (80312312)
田中 理恵 東京大学, 医学部附属病院, 助教 (70746388)
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Co-Investigator(Renkei-kenkyūsha) |
TOKUNAGA Katsushi 東京大学, 大学院医学系研究科, 教授 (40163977)
TERAO Yasuo 東京大学, 医学部附属病院, 講師 (20343139)
HANASHIMA Ritsuko 東京大学, 医学部附属病院, 助教 (80396738)
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Project Period (FY) |
2014-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
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Keywords | 本態性眼瞼痙攣 / Meige症候群 / 疾患感受性遺伝子 / ゲノムワイド解析 / 家族歴 / 眼瞼痙攣 / 薬剤性眼瞼痙攣 / ゲノムワイド関連解析 / 候補領域 / DNAマイクロアレイ |
Outline of Final Research Achievements |
We collected DNA samples from 584 blepharospasm patients. The subtypes of 331 blepharospasm cases (a man: 95, a woman: 236, 63.0+-12.9 years old) that the analysis of the clinical data finished was 238 cases with essential blepharospasm,90 cases with drug-induced blepharospasm, and 3 cases of systematic blepharospasmus. Using 191 samples of those and 419 samples from healthy volunteers as a control, the genome-wide association study with DNA microarray (Axiom Genome-Wide ASI 1 Array Plate) has been performed. By a comparison of the allele frequencies between blepharospasm patients and healthy volunteers, dozens of candidate genomic regions that have a large difference (P10^-6) in the allele frequencies and have a possibility of susceptible genes for blepharospasmus have been determined. We will continue the analysis using remaining samples.
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Report
(4 results)
Research Products
(21 results)
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[Journal Article] A Major Review: Current Aspects of Ocular Behçet's Disease in Japan.2015
Author(s)
Namba K, Goto H, Kaburaki T, Kitaichi N, Mizuki N, Asukata Y, Fujino Y, Meguro A, Sakamoto S, Shibuya E, Yokoi K, Ohno S.
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Journal Title
Ocul Immunol Inflamm.
Volume: 23 Suppl 1
Issue: sup1
Pages: S1-S23
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Evaluation of the long-term efficacy and safety of infliximab treatment for uveitis in Behçet's disease: a multicenter study.2014
Author(s)
Takeuchi M, Kezuka T, Sugita S, Keino H, Namba K, Kaburaki T, Maruyama K, Nakai K, Hijioka K, Shibuya E, Komae K, Hori J, Ohguro N, Sonoda KH, Mizuki N, Okada AA, Ishibashi T, Goto H, Mochizuki M
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Journal Title
Ophthalmology
Volume: 121(10)
Issue: 10
Pages: 1877-1884
DOI
Related Report
Peer Reviewed / Open Access
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