Single nucleotide variants that could serve as the predictive indicator of intravenous immunoglobulin therapy-unresponsive Kawasaki disease.

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K08203
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Shinshu University
• Principal Investigator: Takeshita toshikazu 信州大学, 学術研究院医学系, 教授 (60212023)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 川崎病 / 一塩基遺伝子多型 / IVIG不応答 / IL-2 / IL-4 / サイトカイン

Outline of Final Research Achievements

Kawasaki disease (KD) is a systemic vasculitis which may be associated with coronary artery aneurysms. We found possible candidates of the single nucleotide variant (SNV), which are concentrated in KD patients who did not respond to an intravenous immunoglobulin (IVIG) therapy. The SNVs are located in Jun, Smurf2, PMIP1, NCK1, WNT2, BCAN, MAPK9, ANGPTL4. While we analyzed IL-2 mutants, which affect the inflammatory effect and/or T cell-mediated suppression, we examined the intracellular dynamics, especially the internalization, of IL-2 receptor beta chain through the position of IL-2 effect.

Free Research Field

小児科学

Academic Significance and Societal Importance of the Research Achievements

川崎病患者の免疫グロブリン療法抵抗性に関わる遺伝子多型の報告は多くなく、より詳細な情報の収集が期待されており、その候補遺伝子を見出した。また、川崎病そのもの治療、そして免疫グロブリン療法抵抗性の治療を進めるためにも、関連する遺伝の個々の分子基盤の理解が必要である。川崎病に関連する遺伝子多型として代表であるIL-2作用の分子基盤を解析した。