Identification of novel genes for autoinflammatory diseases focusing on extreme phenotypes

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K17428
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54020:Connective tissue disease and allergy-related
• Research Institution: Yokohama City University
• Principal Investigator: TSUCHIDA Naomi 横浜市立大学, 附属病院, 助教 (30847918)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 自己炎症性疾患 / 全エクソーム解析

Outline of Final Research Achievements

Autoinflammatory diseases (AID) are characterized by such as periodic fever, arthritis, dermatitis, and cause inflammation in various organs, caused by genetic variants in various molecules related to immune system. In this study, we performed genetic analysis to detect variants that cause autoinflammatory diseases and to identify novel causative genes.
We promote the analysis of novel disease-responsible genes, and efficiently identified pathogenic variants of VEXAS syndrome, a newly identified acquired autoinflammatory syndrome in recent years.

Free Research Field

自己炎症性疾患

Academic Significance and Societal Importance of the Research Achievements

自己炎症性疾患における遺伝学的原因解明は、患者の病態理解・治療に重要である。今まで、原因不明な症例として・別疾患として治療されてきた自己炎症性疾患の症例の一部に、遺伝子解析を通じて遺伝子診断に至る症例が多数含まれることが明らかにした。また、後天性バリアントによる疾患の存在から、家系例のみならず孤発例にも着目することが重要であると考えられた。