2023 Fiscal Year Final Research Report

Joint international Research Project for International GWAS Meta-Analysis and Anti-Nephrin Autoantibodies in Childhood Nephrotic Syndrome

Research Project

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Project/Area Number	21KK0147
Research Category	Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
Allocation Type	Multi-year Fund
Review Section	Medium-sized Section 53:Organ-based internal medicine and related fields
Research Institution	Kobe University
Principal Investigator	Iijima Kazumoto 神戸大学, 医学研究科, 客員教授 (00240854)
Co-Investigator(Kenkyū-buntansha)	賈暁媛国立研究開発法人国立国際医療研究センター, 研究所, ゲノム医科学プロジェクト特任研究員 (20914328) 堀之内智子神戸大学, 医学研究科, 助教 (30754593) 長野智那神戸大学, 医学研究科, 助教 (60814316) 野津寛大神戸大学, 医学研究科, 教授 (70362796) 中山真紀子国立研究開発法人国立国際医療研究センター, 研究所, ゲノム医科学戸山プロジェクト特任研究員 (80469999)
Project Period (FY)	2021-10-07 – 2024-03-31
Keywords	小児ネフローゼ症候群 / 疾患感受性遺伝子 / 抗ネフリン抗体
Outline of Final Research Achievements	We organized an international collaborative research group with Dr. Sampson of Boston Children's Hospital-Harvard and colleagues to conduct a multi-ethnic GWAS meta-analysis and an ethnic-specific GWAS meta-analysis in children with steroid-sensitive nephrotic syndrome (SSNS) consisting of six ethnic groups, including Japanese, and healthy controls of each ethnic group. We identified seven new disease-susceptibility genes, which were not only immune-related but also kidney-related. We also found that more than half of Japanese children with SSNS were positive for anti-nephrin antibodies and that the antibody titers correlated well with disease activity.
Free Research Field	小児科学
Academic Significance and Societal Importance of the Research Achievements	本研究成果によって、小児ネフローゼ症候群の遺伝学的背景の理解がさらに進展し、発症機序や病態生理の解明及び新たな治療法の開発に貢献することが期待できる。