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Comprehensive elucidation of the pathophysiology of myopia by big data analysis

Research Project

Project/Area Number 21H03092
Research Category

Grant-in-Aid for Scientific Research (B)

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

Principal Investigator

Tsujikawa Akitaka  京都大学, 医学研究科, 教授 (40402846)

Co-Investigator(Kenkyū-buntansha) 池田 華子  京都大学, 医学研究科, 特定准教授 (20372162)
田村 寛  京都大学, 国際高等教育院, 教授 (40418760)
長崎 正朗  京都大学, スーパーグローバルコース医学生命系ユニット, 特定教授 (90396862)
三宅 正裕  京都大学, 医学研究科, 特定講師 (90812793)
若園 知尊  京都大学, 医学研究科, 特定病院助教 (90884635)
Project Period (FY) 2021-04-01 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2023: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2022: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
Fiscal Year 2021: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Keywords近視 / 高度近視
Outline of Research at the Start

近年、世界的に近視が急増している。軽度の近視から失明に至ることはまれだが、強度な近視の5~10%程度は脈絡膜新生血管や眼球変形により網脈絡膜萎縮を引き起こし失明に至る。このような強度近視からの失明には遺伝的素因も大きいことが指摘されているが、その機序は特定されていない。本研究ではゲノム・疫学研究・眼球形状解析・機能解析など、多くの分野のビッグデータ解析を用いて、近視・強度近視の・失明に至る合併症の病態解明を目指す。

Outline of Final Research Achievements

This research project utilized big data, including genomes, to advance the understanding of the mechanisms and pathogenesis of myopia. We conducted whole-genome analysis on a total of 274 cases of high myopia, genome-wide association studies on over 1500 cases of high myopia, and analysis of the entire dataset from the National Database (NDB) by an on-site research center.

As a result, a manuscript on the epidemiology of myopia in Japanese children is currently under review for publication. Our genome-wide association analysis of high myopia cases was selected as the best paper at the 2023 American Academy of Ophthalmology meeting and is currently being prepared for publication. Additionally, we are progressing with animal experiments for rare variant analysis related to extreme high myopia.

Academic Significance and Societal Importance of the Research Achievements

近年、世界的に近視が急増している。中でも、強度な近視の5~10%程度は脈絡膜新生血管や眼球変形により網脈絡膜萎縮を引き起こし失明に至るため、本邦の視覚障害原因の4位、視力のみで評価した場合には失明原因の1位となっている。強度近視からの失明には遺伝的素因も大きいことが指摘されているが、その機序は特定されていない。本研究で強度近視、最強度近視の遺伝的背景及び分子生物学的機序を解明することで、近視による失明の防止に繋がる可能性がある。

Report

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

    (8 results)

All 2023 2022 2021

All Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 6 results,  Open Access: 3 results) Presentation (2 results) (of which Int'l Joint Research: 2 results)

  • [Journal Article] Influence of Trabeculectomy with Mitomycin C on Longitudinal Changes in the Visual Field in Glaucoma Patients with High Myopia2023

    • Author(s)
      Yamagata Yutaro、Suda Kenji、Akagi Tadamichi、Ikeda Hanako Ohashi、Kameda Takanori、Hasegawa Tomoko、Miyake Masahiro、Tsujikawa Akitaka
    • Journal Title

      Clinical Ophthalmology

      Volume: Volume 17 Pages: 2413-2422

    • DOI

      10.2147/opth.s415654

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] TEN-YEAR VISUAL OUTCOME AND CHANGE IN CHORIORETINAL ATROPHY AFTER INTRAVITREAL RANIBIZUMAB FOR MACULAR NEOVASCULARIZATION IN PATHOLOGIC MYOPIA2023

    • Author(s)
      Sakata Ryo、Miyata Manabu、Ooto Sotaro、Tamura Hiroshi、Ueda-Arakawa Naoko、Muraoka Yuki、Miyake Masahiro、Hata Masayuki、Takahashi Ayako、Kido Ai、Numa Shogo、Mori Yuki、Tsuda Kanae、Uji Akihito、Oishi Akio、Tsujikawa Akitaka
    • Journal Title

      Retina

      Volume: 43 Pages: 1863-1871

    • DOI

      10.1097/iae.0000000000003869

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration2023

    • Author(s)
      Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium.
    • Journal Title

      EBioMedicine

      Volume: 91 Pages: 104551-104551

    • DOI

      10.1016/j.ebiom.2023.104551

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Rare variant analyses across multiethnic cohorts identify novel genes for refractive error2023

    • Author(s)
      Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, et al.
    • Journal Title

      Commun Biol .

      Volume: 6 Issue: 1 Pages: 6-6

    • DOI

      10.1038/s42003-022-04323-7

    • Related Report
      2023 Annual Research Report 2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] PREDICTORS OF RETINAL PIGMENT EPITHELIUM TEAR DEVELOPMENT AFTER TREATMENT FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION USING SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY2022

    • Author(s)
      Yasuhara Satoshi、Miyata Manabu、Ooto Sotaro、Tamura Hiroshi、Ueda-Arakawa Naoko、Uji Akihito、Muraoka Yuki、Miyake Masahiro、Takahashi Ayako、Wakazono Tomotaka、Yamashiro Kenji、Tsujikawa Akitaka
    • Journal Title

      Retina

      Volume: Publish Ahead of Print Issue: 6 Pages: 1020-1027

    • DOI

      10.1097/iae.0000000000003426

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Myopia Prevalence and Ocular Biometry Features in a General Japanese Population: The Nagahama Study.2021

    • Author(s)
      Nakao SY, Miyake M, Hosoda Y, Nakano E, Mori Y, Takahashi A, Ooto S, Tamura H, Tabara Y, Yamashiro K, Matsuda F, Tsujikawa A; of the Nagahama Study Group.
    • Journal Title

      Ophthalmology

      Volume: 128 Issue: 4 Pages: 522-531

    • DOI

      10.1016/j.ophtha.2020.08.023

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] Genome-wide Meta and Gene Ontology Analysis for High Myopia2023

    • Author(s)
      Kazuya Morino1), Masahiro Miyake1), Akira Meguro2), Masao Nagasaki1,3), Yuki Mori1), Shin-ya Nakao1), Takuro Kamei1), Nao Aisu1), Nobuhisa Mizuki2), Akitaka Tsujikawa
    • Organizer
      American Academy of Ophthalmology
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genome-wide Meta and Gene Ontology Analysis for High Myopia2023

    • Author(s)
      Kazuya Morino1), Masahiro Miyake1), Akira Meguro2), Masao Nagasaki1,3), Yuki Mori1), Shin-ya Nakao1), Takuro Kamei1), Nao Aisu1), Nobuhisa Mizuki2), Akitaka Tsujikawa
    • Organizer
      Fujiretina
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research

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Published: 2021-04-28   Modified: 2025-01-30  

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