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whole-exome sequencing analysis of uveitis diseases

Research Project

Project/Area Number 20H03843
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 56060:Ophthalmology-related
Research InstitutionYokohama City University

Principal Investigator

MIZUKI Nobuhisa  横浜市立大学, 医学研究科, 教授 (90336579)

Co-Investigator(Kenkyū-buntansha) 目黒 明  横浜市立大学, 医学研究科, 特任教授 (60508802)
Project Period (FY) 2020-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥17,680,000 (Direct Cost: ¥13,600,000、Indirect Cost: ¥4,080,000)
Fiscal Year 2022: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2021: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2020: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
Keywordsベーチェット病 / サルコイドーシス / 強直性脊椎炎 / エクソーム解析 / ぶどう膜炎 / 遺伝子
Outline of Research at the Start

本研究では、ぶどう膜炎の主要な原因疾患であるベーチェット病、サルコイドーシスおよび強直性脊椎炎を対象に、各々の疾患を多発する複数家系を用いて、全遺伝子上のエクソン領域の全塩基配列を決定(エクソーム解析)することにより、各疾患の発症要因となる疾患責任遺伝子の特定を行う。本研究で得られる成果は、ベーチェット病、サルコイドーシスおよび強直性脊椎炎の病態の解明を可能にするとともに、各々の疾患の根治治療を目的とした新規治療薬の開発を可能にすることが期待される。

Outline of Final Research Achievements

The etiology of Behcet's disease, sarcoidosis, and ankylosing spondylitis remains unclear, but both genetic and environmental factors are involved in the pathogenesis of these diseases. In this study, we performed exome sequencing on multiple families of these diseases and identified a causative variant in each family. Functional analyses revealed that some of the identified causative variants are involved in the reduction or dysfunction of causative genes, suggesting that functional changes in genes caused by causative variants trigger the development of Behcet's disease, sarcoidosis, and ankylosing spondylitis.

Academic Significance and Societal Importance of the Research Achievements

本研究は、難治性ぶどう膜炎疾患であるベーチェット病、サルコイドーシスおよび強直性脊椎炎を対象に大規模にエクソーム解析を実行した遺伝学的調査である。本研究で得られるエクソーム解析のデータは、ベーチェット病、サルコイドーシスおよび強直性脊椎炎の発症機序や病態を解明するための重要な情報になり得ると考えている。また、本研究の成果は、各々のぶどう膜炎疾患における新規治療薬(モノクローナル抗体、標的分子結合ペプチドや酵素阻害剤など)の開発にも繋がり、その医学的意義は大変高いと考えている。

Report

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

    (12 results)

All Other

All Int'l Joint Research (12 results)

  • [Int'l Joint Research] Strasbourg University(フランス)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Palacky University(チェコ)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] University of Tehran(イラン)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] National Institutes of Health(米国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Strasbourg University(フランス)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Palacky University(チェコ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] University of Tehran(イラン)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] National Institutes of Health(米国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Strasbourg University(フランス)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Palacky University(チェコ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] University of Tehran(イラン)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] National Institutes of Health(米国)

    • Related Report
      2020 Annual Research Report

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Published: 2020-04-28   Modified: 2024-01-30  

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