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Genetic and clinical factors in age-related macular degeneration and similar diseases

Research Project

Project/Area Number 19K18841
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 56060:Ophthalmology-related
Research InstitutionUniversity of Yamanashi

Principal Investigator

Yoneyama Seigo  山梨大学, 大学院総合研究部, 助教 (90751652)

Project Period (FY) 2019-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2021: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Keywords加齢黄斑変性 / 中心性漿液性脈絡網膜症 / 遺伝子 / 治療予後 / 抗血管内皮増殖因子 / 抗VEGF
Outline of Research at the Start

本研究の目的は、加齢黄斑変性患者における遺伝的要因と環境的要因を調査し、その原因を明らかにする事にある。また、現在主な治療方法としては、抗血管内皮増殖因子剤の硝子体内注射や光線力学療法があるが、遺伝的要因と臨床所見との関連性を調査することで、発症予防や治療効果判定、新たな治療の発見に結びついていくものと考えられる。

Outline of Final Research Achievements

The pathogenic mechanism of age-related macular degeneration (AMD) remains unclear. By investigating the relationship between genetic factors and response to therapy, it is thought that it will lead to the analysis of pathogenic mechanism, treatment prediction and discovery of new treatments. Intravitreal injections of anti-vascular endothelial growth factor agents have been first-line therapy for exudative AMD worldwide. We investigated the genetic associations of response to as-needed intravitreal aflibercept injection(IAI) with visual outcomes and the need for additional injections during 12-month follow-up. The risk allele of ARMS2 A69S and CFH rs1329428 were associated with the need for retreatment and a greater number of additional injections.

Academic Significance and Societal Importance of the Research Achievements

加齢黄斑変性(AMD)は、網膜出血や滲出性網膜剥離を来し、視力低下及び中心視野障害を来す疾患であり、本邦では、後天的失明の第4位であり、平均余命の上昇及び生活スタイルの欧米化に伴い近年増加傾向にある。しかし、未だ発症機序が不明な点もあり、遺伝的要因と臨床所見、治療反応性との関連を調査することで、発症予防や治療効果判定予測、新たな治療の発見に結びついていくものと考えられる。本研究から、AMD感受性遺伝子を調べることで、治療法の選択や診療間隔決定などを患者にあわせて調整できる可能性がある。その結果、患者の視力予後改善、医療費用の削減などの社会的意義も得られる可能性がある。

Report

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

    (19 results)

All 2022 2021 2020 2019

All Journal Article (10 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 9 results,  Open Access: 9 results) Presentation (9 results)

  • [Journal Article] Five-Year Outcome of Aflibercept Monotherapy for Exudative Age-Related Macular Degeneration with Good Baseline Visual Acuity2021

    • Author(s)
      Kikushima W, Sakurada Y, Sugiyama A, Yoneyama S, Matsubara M, Fukuda Y, Kashiwagi K.
    • Journal Title

      J Clin Med

      Volume: 10 Issue: 5 Pages: 1098-1098

    • DOI

      10.3390/jcm10051098

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics2021

    • Author(s)
      Shijo Taiyo、Sakurada Yoichi、Tanaka Koji、Miki Akiko、Yoneyama Seigo、Machida Yumiko、Chubachi Aya、Wakatsuki Yu、Sugiyama Atsushi、Onoe Hajime、Kikushima Wataru、Mori Ryusaburo、Kashiwagi Kenji
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 22 Issue: 8 Pages: 4074-4074

    • DOI

      10.3390/ijms22084074

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Long-term prognosis of polypoidal choroidal vasculopathy with a 5-year remission after an initial combination therapy2021

    • Author(s)
      Kikushima Wataru、Sakurada Yoichi、Yoneyama Seigo、Sugiyama Atsushi、Matsubara Mio、Fukuda Yoshiko、Kashiwagi Kenji
    • Journal Title

      Photodiagnosis and Photodynamic Therapy

      Volume: 35 Pages: 102453-102453

    • DOI

      10.1016/j.pdpdt.2021.102453

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Title: Pachydrusen in Fellow Eyes Predict Response to Aflibercept Monotherapy in Patients with Polypoidal Choroidal Vasculopathy2020

    • Author(s)
      Fukuda Y, Sakurada Y, Sugiyama A, Yoneyama S, Matsubara M, Kikushima W, Tanabe N, Parikh R, Kashiwagi K.
    • Journal Title

      J Clin Med

      Volume: 31 Issue: 8 Pages: 2459-2459

    • DOI

      10.3390/jcm9082459

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration2020

    • Author(s)
      Shijo T, Sakurada Y, Yoneyama S, Kikushima W, Sugiyama A, Matsubara M, Fukuda Y, Mabuchi F, Kashiwagi K.
    • Journal Title

      Pharmaceuticals (Basel)

      Volume: 20 Issue: 9 Pages: 257-257

    • DOI

      10.3390/ph13090257

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association of CRP levels with ARMS2 and CFH variants in age-related macular degeneration2020

    • Author(s)
      Shijo T, Sakurada Y, Fukuda Y, Yoneyama S, Sugiyama A, Matsubara M, Kikushima W, Tanabe N, Parikh R, Kashiwagi K.
    • Journal Title

      Int Ophthalmol

      Volume: 7 Issue: 10 Pages: 2735-2742

    • DOI

      10.1007/s10792-020-01460-y

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic factors associated with response to as-needed aflibercept therapy for typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy2020

    • Author(s)
      Yoneyama S, Sakurada Y, Kikushima W, Sugiyama A, Matsubara M, Fukuda Y, Tanabe N, Parikh R, Mabuchi F, Kashiwagi K, Iijima H.
    • Journal Title

      Sci Rep

      Volume: 28 Issue: 1 Pages: 7188-7188

    • DOI

      10.1038/s41598-020-64301-z

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Five-year outcomes of photodynamic therapy combined with intravitreal injection of ranibizumab or aflibercept for polypoidal choroidal vasculopathy2020

    • Author(s)
      Wataru Kikushima、Sugiyama Atsushi、Yoneyama Seigo、Matsubara Mio、Fukuda Yoshiko、Parikh Ravi、Sakurada Yoichi
    • Journal Title

      PLOS ONE

      Volume: 15 Issue: 2 Pages: e0229231-e0229231

    • DOI

      10.1371/journal.pone.0229231

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy2019

    • Author(s)
      Hosoda Yoshikatsu、Miyake Masahiro、Schellevis Rosa L.、Boon Camiel J. F.、Hoyng Carel B.、Miki Akiko、Meguro Akira、Sakurada Yoichi、Yoneyama Seigo、Takasago Yukari、Hata Masayuki、Muraoka Yuki、Nakanishi Hideo、Oishi Akio、Ooto Sotaro、Tamura Hiroshi、Uji Akihito、Miyata Manabu、et. al.
    • Journal Title

      Communications Biology

      Volume: 2 Issue: 1 Pages: 468-468

    • DOI

      10.1038/s42003-019-0712-z

    • NAID

      120006773934

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and genetic characteristics of pachydrusen in patients with exudative age-related macular degeneration2019

    • Author(s)
      Fukuda Yoshiko、Sakurada Yoichi、Yoneyama Seigo、Kikushima Wataru、Sugiyama Atsushi、Matsubara Mio、Tanabe Naohiko、Iijima Hiroyuki
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 1-7

    • DOI

      10.1038/s41598-019-48494-6

    • Related Report
      2019 Research-status Report
  • [Presentation] 中心性漿液性脈絡網膜症における臨床所見の男女差の検討2022

    • Author(s)
      米山征吾
    • Organizer
      第23回山梨網膜研究会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 中心性漿液性脈絡網膜症におけるComplex typeの頻度と臨床的・遺伝的特徴2022

    • Author(s)
      米山征吾、福井歩美、櫻田庸一、寺尾信宏、菊島渉、四條泰陽、外園千恵、柏木賢治
    • Organizer
      第126回日本眼科学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] Genetic factors associated with response to as-needed aflibercept therapy for typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy2022

    • Author(s)
      米山征吾
    • Organizer
      第126回日本眼科学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 中心性漿液性脈絡網膜症における臨床的特徴とCFH遺伝子多型との関連2021

    • Author(s)
      米山征吾、福井歩美、櫻田庸一、寺尾信宏、菊島渉、四條泰陽、外園千恵、柏木賢治
    • Organizer
      第125回日本眼科学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 治療前視力が良好な未治療加齢黄斑変性に対するアフリベルセプト硝子体注射の5年成績2021

    • Author(s)
      菊島渉、櫻田庸一、杉山敦、米山征吾、松原美緒、田辺直彦、福田佳子、柏木賢治
    • Organizer
      第125回日本眼科学会総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] ポリープ状脈絡膜血管症に対する抗血管新生薬併用光線力学的療法後再発症例の長期成績2020

    • Author(s)
      菊島渉
    • Organizer
      第59回日本網膜硝子体学会
    • Related Report
      2020 Research-status Report
  • [Presentation] ポリープ状脈絡膜血管症へのアフリベルセプト単独療法と併用光線力学的療法の5年成績2020

    • Author(s)
      菊島渉
    • Organizer
      第124回日本眼科学会
    • Related Report
      2020 Research-status Report
  • [Presentation] ポリープ状脈絡膜血管症に対するアフリベルセプト併用光線力学的療法の5年成績2019

    • Author(s)
      菊島 渉
    • Organizer
      第58回日本網膜硝子体学会
    • Related Report
      2019 Research-status Report
  • [Presentation] 高感度CRPと加齢黄斑変性2019

    • Author(s)
      四條 泰陽
    • Organizer
      第58回日本網膜硝子体学会
    • Related Report
      2019 Research-status Report

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Published: 2019-04-18   Modified: 2023-01-30  

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