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Creation of genetic diagnosis catalog and clinical development for pulmonary arterial hypertension

Research Project

Project/Area Number 19H03670
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 53030:Respiratory medicine-related
Research InstitutionKeio University (2020-2022)
Kyorin University (2019)

Principal Investigator

Satoh Toru  慶應義塾大学, 医学部(信濃町), 共同研究員 (20170764)

Co-Investigator(Kenkyū-buntansha) 片岡 雅晴  産業医科大学, 医学部, 教授 (20445208)
蒲生 忍  慶應義塾大学, 医学部(信濃町), 訪問教授 (90122308)
Project Period (FY) 2019-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2021: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2020: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2019: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Keywords肺動脈性肺高血圧症 / 原因遺伝子 / 遺伝子 / 肺高血圧症 / オミクス解析
Outline of Research at the Start

本研究では最新の遺伝子変異検出法を応用し、PAHでスプライシング異常や発現異常を起こす変異の網羅的探索が達成されるか、結合組織病や先天性心疾患に合併するPAHにおいて新たな原因/感受性遺伝子や合併の有無を分ける遺伝的背景が存在するのか、について検証する。さらに、これら疾患の遺伝的背景の全容を解明し、統合的な遺伝子診断カタログを作成し、情報共有化・発症予防法/早期発症予知法の開発に繋げ、臨床的寄与を目指す。

Outline of Final Research Achievements

Whole exome analysis and transcriptome analysis were performed. At the same time, we created a genetic diagnosis catalog that included external factors. Genomic analysis using samples of Japanese PAH patients, we identified novel PAH-causing genes, such as TNFRSF13B, TET2, and RNF213 genes. In addition, the RNF213 R4810K variant is associated with the onset of multiple intractable vascular diseases such as moyamoya disease and peripheral pulmonary artery stenosis, as well as PAH. Thus, we proposed a new disease concept called RNF213-associated vascular disease.

Academic Significance and Societal Importance of the Research Achievements

本研究の成果は、難病疾患であるPAHにおける新規遺伝子を同定し、新しい発症病態を解明したものである。この成果は、治療反応性の相違や治療介入分子の同定を含んでおり、PAHにおける個別化医療への展開を加速させる重要な成果となった。また、本研究をモデルケースとして、難病疾患におけるゲノム解析と遺伝子診断カタログ作成による臨床への貢献が他疾患へも応用されることが期待され、社会的貢献度も高いと考えられる。

Report

(4 results)
  • 2022 Final Research Report ( PDF )
  • 2021 Annual Research Report
  • 2020 Annual Research Report
  • 2019 Annual Research Report
  • Research Products

    (2 results)

All 2022 2021

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 2 results)

  • [Journal Article] RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies2022

    • Author(s)
      Hiraide Takahiro、Suzuki Hisato、Momoi Mizuki、Shinya Yoshiki、Fukuda Keiichi、Kosaki Kenjiro、Kataoka Masaharu
    • Journal Title

      Life

      Volume: 12 Issue: 4 Pages: 555-555

    • DOI

      10.3390/life12040555

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] <i>TNFRSF13B</i> c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.2021

    • Author(s)
      Shinya Y, Hiraide T, Momoi M, Goto S, Suzuki H, Katsumata Y, Kurebayashi Y, Endo J, Sano M, Fukuda K, Kosaki K, Kataoka M.
    • Journal Title

      J Am Heart Assoc.

      Volume: 10 Issue: 5

    • DOI

      10.1161/jaha.120.019245

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access

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Published: 2019-04-18   Modified: 2024-01-30  

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