Suseptible genes for essential blepharospasmus

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462658
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: The University of Tokyo
• Principal Investigator: Kaburaki Toshikatsu 東京大学, 医学部附属病院, 准教授 (00280941)
• 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)
• Project Period (FY): 2014-04-01 – 2017-03-31
• 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

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.

Free Research Field

眼科学