A genetic study of extremely severe Kawasaki disease patients

2016 Fiscal Year Final Research Report

• Project/Area Number: 25293139
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Epidemiology and preventive medicine
• Research Institution: Chiba University
• Principal Investigator: ONOUCHI YOSHIHIRO 千葉大学, 医学(系)研究科(研究院), 准教授 (30360522)
• Co-Investigator(Renkei-kenkyūsha): NAKAMURA Yosikazu 自治医科大学, 公衆衛生学, 教授 (50217915) ; OZAKI Kouichi 理化学研究所, 統合生命医科学研究センター・循環器疾患研究チーム, 上級研究員 (50373288)
• Research Collaborator: NAKAGAWA Hidewaki 理化学研究所統合生命医科学研究センター, ゲノムシーケンス解析研究チーム, チームリーダー ; SHIGEMIZU Daichi 東京医科歯科大学, 難治疾患研究所ゲノム応用医学研究部門医科学数理分野, 助教
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 川崎病 / 巨大冠動脈瘤 / 頻回再発 / 遺伝要因

Outline of Final Research Achievements

To obtain clue to the unexplained part of genetic background of Kawasaki disease (KD), we focused on extreme phenotypes of KD such as developing giant coronary aneurysms and frequently recurrence which are not expected to be caused by common variations in the population. We collected 48 KD patients with giant coronary aneurysms and carried out whole exome sequencing for 47 of them. By excluding variants with frequencies of 0.3% or more in public and in-house databases and those with CADD scores smaller than 20, we obtained 4,400 candidate alleles. Whole genome sequence analysis for frequently recurring KD cases was also carried out. 2 sibling cases and their family members and one singleton KD patient were analyzed. Narrowing down of the candidates by considering consistency within families and the impacts of the variants on the genes was done.

Free Research Field

人類遺伝学