| 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 |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | The University of Tokyo |
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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 |
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| 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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