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Exome-wide Association Study for Subtypes of Age-related Macular Degeneration

Research Project

Project/Area Number 15K10879
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionInternational University of Health and Welfare

Principal Investigator

Mori Keisuke  国際医療福祉大学, 医学部, 教授 (90251090)

Co-Investigator(Kenkyū-buntansha) 勝本 武志  埼玉医科大学, 医学部, 助教 (20751887)
堀江 公仁子  埼玉医科大学, 医学部, 教授 (90261982)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords加齢黄斑変性 / 網膜血管腫状増殖 / reticular pseudodrusen / ポリープ状脈絡膜血管症 / 遺伝子解析 / 遺伝子多型 / エクソーム解析 / 一塩基多型 / 次世代シーケンサ
Outline of Final Research Achievements

Age-related macular degeneration (AMD) is a leading cause of blindness of elderly people in the developed countries. It is a complex disease with multiple specific genes and environmental risk factors. However, specific susceptible genes have been relatively unknown for two distinct subtypes of AMD, polypoidal choroidal vasculopathy and retinal angiomatous proliferation. The representative of this study participated in international joint research and found that a missense variant in FGD6 confers increased risk of PCV. FGD6 also promotes more abnormal vessel development in the mouse retina model. A genetic association study with RAP is currently under way.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (26 results)

All 2018 2017 2016 2015 Other

All Int'l Joint Research (12 results) Journal Article (6 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 6 results,  Open Access: 6 results,  Acknowledgement Compliant: 1 results) Presentation (8 results) (of which Int'l Joint Research: 3 results,  Invited: 1 results)

  • [Int'l Joint Research] Singapore Eye Research Institute/Duke-NUS Graduate Medical School/National University Health System(シンガポール)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] The Chinese University of Hong Kong(中国(香港))

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] Seoul National University/Seoul Nat Univ Bundang Hospital/College of Medicine(韓国)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] Sichuan Provincial People’s Hospital/University of Electronic Science/Ministry of Education of China(中国)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] University of Pittsburgh/Public Health, University of Pittsburgh(米国)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research]

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] Singapore Eye Research Institute/Duke-NUS Graduate Medical School/National University Health System(シンガポール)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] The Chinese University of Hong Kong(中国(香港))

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] Seoul National University/Seoul National University/College of Medicine(韓国)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] Sichuan Provincial People’s Hospital/University of Electronic Science/Ministry of Education of China(中国)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] University of Pittsburgh/Public Health, University of Pittsburgh(米国)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research]

    • Related Report
      2015 Research-status Report
  • [Journal Article] Posterior vitreous detachment as observed by wide-angle OCT imaging2018

    • Author(s)
      Tsukahara M, Mori K, Gehlbach PL, Mori K
    • Journal Title

      Ophthalmology

      Volume: 印刷中

    • NAID

      40022067123

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration.2017

    • Author(s)
      Yamashiro K, Mori K, Honda S, Kano M, Yanagi Y, Obana A, Sakurada Y, Sato T, Nagai Y, Hikichi T, Kataoka Y, Hara C, Koyama Y, Koizumi H, Yoshikawa M, Miyake M, Nakata I, Tsuchihashi T, Horie-Inoue K, et al.
    • Journal Title

      Sci Rep

      Volume: 7(1) Issue: 1 Pages: 9196-9196

    • DOI

      10.1038/s41598-017-09632-0

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Retinochoroidal morphology described by wide-field montage imaging of spectral domain optical coherence tomography.2016

    • Author(s)
      Mori K, Kanno J, Gehlbach PL.
    • Journal Title

      Retina

      Volume: 36 Issue: 2 Pages: 375-384

    • DOI

      10.1097/iae.0000000000000703

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.2016

    • Author(s)
      Huang L,Zhang H,Cheng CY,Wen F,Tam POS,Zhao P,Chen H,Li Z,Chen L,Tai Z,Yamashiro K,Deng S,Zhu X,Chen W,Li C,Lu F,Li Y,Cheung CMG,Shi Y,Miyake M,Lin Y,Gong B,Liu X,Sim KS,Yang J,Mori K,Zhang X,Cackett PD,Tsujikawa M,Nishida K,Hao F,Ma S,Lin H,Chen J,Fei P,Lai TYY,Tang S,Laude A,Inoue S,et al.
    • Journal Title

      Nat Genet

      Volume: 48 Issue: 6 Pages: 640-647

    • DOI

      10.1038/ng.3546

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.2016

    • Author(s)
      Momozawa Y, Akiyama M, Kamatani Y, Arakawa S, Yasuda M, Yoshida S, Oshima Y, Mori R, Tanaka K, Mori K, Inoue S, Terasaki H, Yasuma T, Honda S, Miki A, Inoue M, Fujisawa K, Takahashi K, Yasukawa T, Yanagi Y, Kadonosono K, Sonoda KH, Ishibashi T, Takahashi A, Kubo M.
    • Journal Title

      Hum Mol Genet.

      Volume: 25 Pages: 5027-5034

    • DOI

      10.1093/hmg/ddw335

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] New loci and coding variants confer risk for age-related macular degeneration in East Asians.2015

    • Author(s)
      Cheng CY, Yamashiro K, et al.
    • Journal Title

      Nat Commun.

      Volume: 6 Issue: 1 Pages: 6063-6063

    • DOI

      10.1038/ncomms7063

    • NAID

      40020618531

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 正常眼における後部硝子体剥離の進展様式2017

    • Author(s)
      199.塚原麻由佳、森圭子、鎌田泰彰、原直人、菅野順二、篠田啓、新井田孝裕、森圭介
    • Organizer
      第121回日本眼科学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Vitreous Mobility in Eyes with Epiretinal Membrane, Vitreomacular Traction Syndrome and Macular Hole2017

    • Author(s)
      200.Keisuke Mori, Mayuka Tsukahara, Keiko Mori, Peter L. Gehlbach.
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Evolution of vitreoretinal separation in normal subjects as described by wide-angle montage imaging of optical coherence tomography.2017

    • Author(s)
      201.Mayuka Tsukahara, Keiko Mori, Peter L. Gehlbach, Keisuke Mori.
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 黄斑疾患の治療戦略.「黄斑疾患徹底解説―病態および診断から治療戦略まで―」2017

    • Author(s)
      尾花明、森圭介、飯島裕幸、五味文、安川力、柳靖雄.
    • Organizer
      第71回日本臨床眼科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた滲出型加齢黄斑変性類縁疾患の疾患感受性遺伝子の解析2017

    • Author(s)
      205.堀江公仁子、木村至、樺澤昌、土橋尊志、池田和博、森圭介、井上聡.
    • Organizer
      第15回RCGM
    • Related Report
      2017 Annual Research Report
  • [Presentation] 脈絡膜血管新生モデルにおける遺伝子発現ネットワーク.2016

    • Author(s)
      堀江公仁子、上山数弘、森圭介、井上聡.
    • Organizer
      脳心血管抗加齢研究会
    • Place of Presentation
      東京、日本
    • Year and Date
      2016-12-17
    • Related Report
      2016 Research-status Report
  • [Presentation] Potential androgen receptor-mediated gene regulatory pathways in a mouse model of laser-induced choroidal neovascularization.2016

    • Author(s)
      Horie-Inoue K, Ueyama K, Mori K, Inoue S.
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research.
    • Place of Presentation
      Tokyo, Japan
    • Year and Date
      2016-09-25
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] 次世代シーケンサーによる加齢黄斑変性類縁疾患感受性遺伝子の同定.2016

    • Author(s)
      森圭介、堀江公仁子
    • Organizer
      国際医療福祉大学学会.
    • Place of Presentation
      栃木、日本
    • Year and Date
      2016-08-28
    • Related Report
      2016 Research-status Report
    • Invited

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Published: 2015-04-16   Modified: 2022-02-28  

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