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

Research Project

Project/Area Number 21KK0147
Research Category

Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))

Allocation TypeMulti-year Fund
Review Section Medium-sized Section 53:Organ-based internal medicine and related fields
Research InstitutionKobe 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
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥19,110,000 (Direct Cost: ¥14,700,000、Indirect Cost: ¥4,410,000)
Fiscal Year 2023: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2022: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2021: ¥7,670,000 (Direct Cost: ¥5,900,000、Indirect Cost: ¥1,770,000)
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 / ネフローゼ症候群 / GWASメタ解析 / ネフリン
Outline of Research at the Start

本研究は、Boston Children’s Hospital(Harvard大学)のMatthew Sampson博士らとの国際共同研究であり、①7つの候補領域から新規疾患感受性遺伝子を同定すること、②日本人小児NSにおける抗ネフリン自己抗体の陽性率や疾患活動性との関連及びHLA class IIやNPHS1等の疾患感受性遺伝子の遺伝子型と抗ネフリン自己抗体との関連を解明することを目的とする。

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.

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。

Report

(4 results)
  • 2023 Annual Research Report   Final Research Report ( PDF )
  • 2022 Research-status Report
  • 2021 Research-status Report
  • Research Products

    (18 results)

All 2024 2023 2022 2021 Other

All Int'l Joint Research (5 results) Journal Article (10 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 7 results,  Open Access: 5 results) Presentation (3 results) (of which Int'l Joint Research: 2 results,  Invited: 3 results)

  • [Int'l Joint Research] Boston Children's Hospital/Columbia University(米国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Sorbonne University(フランス)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Boston Children’s Hospital/Columbia University(米国)

    • Related Report
      2022 Research-status Report
  • [Int'l Joint Research] Sorbonne University(フランス)

    • Related Report
      2022 Research-status Report
  • [Int'l Joint Research] Boston Children’s Hospital(米国)

    • Related Report
      2021 Research-status Report
  • [Journal Article] 【腎臓学この1年の進歩】ネフリンとネフローゼ症候群2024

    • Author(s)
      飯島 一誠, 堀之内 智子, 長野 智那, 野津 寛大
    • Journal Title

      日本腎臓学会誌

      Volume: 66巻 Pages: 303-309

    • Related Report
      2023 Annual Research Report
  • [Journal Article] 特集 病因・病態生理から読み解く腎・泌尿器疾患のすべて Ⅱ.糸球体疾患 1.微小変化型ネフローゼ症候群2023

    • Author(s)
      飯島 一誠
    • Journal Title

      腎と透析

      Volume: 95 Issue: 7 Pages: 26-31

    • DOI

      10.24479/kd.0000000991

    • ISSN
      0385-2156
    • Year and Date
      2023-12-15
    • Related Report
      2023 Annual Research Report
  • [Journal Article] Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial)2023

    • Author(s)
      Nozu Kandai、Sako Mayumi、Tanaka Seiji、Kano Yuji、Ohwada Yoko、Morohashi Tamaki、Hamada Riku、Ohtsuka Yasufumi、Oka Masafumi、Kamei Koichi、Inaba Aya、Ito Shuichi、Sakai Tomoyuki、Kaito Hiroshi、Shima Yuko et al.
    • Journal Title

      Clinical and Experimental Nephrology

      Volume: 28 Issue: 4 Pages: 337-348

    • DOI

      10.1007/s10157-023-02431-0

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children2023

    • Author(s)
      Horinouchi Tomoko、Nagano China、Watts Andrew J. B.
    • Journal Title

      Pediatric Nephrology

      Volume: 39 Issue: 1 Pages: 337-337

    • DOI

      10.1007/s00467-023-06107-5

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome2023

    • Author(s)
      Barry A, McNulty MT, Jia X, Nagano C, Horinouchi T, Nozu K, Tokunaga K, Ronco P, Iijima K, Sampson MG, et al.
    • Journal Title

      Nature Communications

      Volume: 14 Issue: 1 Pages: 2481-2481

    • DOI

      10.1038/s41467-023-37985-w

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 【遺伝を考える】(II章)遺伝学的診断 個別診療分野における遺伝学的診断の進歩 腎・泌尿器領域2023

    • Author(s)
      飯島 一誠, 堀之内 智子, 野津 寛大
    • Journal Title

      日本医師会雑誌

      Volume: 152巻特別1

    • Related Report
      2023 Annual Research Report
  • [Journal Article] A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants2023

    • Author(s)
      Malakasioti G, Iancu D, Milovanova A, Tsygin A, Horinouchi T, Nagano C, Nozu K, Kamei K, Fujinaga S, Iijima K, et al. ; CNI in Monogenic SRNS Study Investigators
    • Journal Title

      Kidney International

      Volume: 103 Issue: 5 Pages: 962-972

    • DOI

      10.1016/j.kint.2023.02.022

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study2022

    • Author(s)
      Ishimori S, Horinouchi T, Fujimura J, Yamamura T, Matsunoshita N, Kamiyoshi N, Sato M, Ogura M, Kamei K, Ishikura K, Iijima K, Nozu K
    • Journal Title

      Pediatric Nephrology

      Volume: Nov 30 Issue: 7 Pages: 2107-2116

    • DOI

      10.1007/s00467-022-05783-z

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis2022

    • Author(s)
      Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
    • Journal Title

      Kidney360

      Volume: 3 Issue: 8 Pages: 1384-1393

    • DOI

      10.34067/kid.0000812022

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome2022

    • Author(s)
      Horinouchi Tomoko、Nozu Kandai、Iijima Kazumoto
    • Journal Title

      Pediatric Nephrology

      Volume: - Issue: 9 Pages: 1957-1965

    • DOI

      10.1007/s00467-021-05401-4

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] State of the art nephrotic syndrome: Insights into pathogenesis and treatment2022

    • Author(s)
      Kazumoto Iijima
    • Organizer
      54th Annual Scientific Meeting of the European Society for Pediatric Nephrology
    • Related Report
      2022 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] MMF after rituximab for complicated FRNS/SDNS2022

    • Author(s)
      Kazumoto Iijima
    • Organizer
      19th Congress of the International Pediatric Nephrology Association
    • Related Report
      2022 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] エビデンスに基づいた小児ネフローゼ症候群の治療2021

    • Author(s)
      飯島一誠
    • Organizer
      第42回日本小児腎不全学会学術集会
    • Related Report
      2021 Research-status Report
    • Invited

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Published: 2021-10-22   Modified: 2025-01-30  

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