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Investigation of susceptibility genes for primary open-angle glaucoma-Analysis of ESR2 gene polymorphisms-

Research Project

Project/Area Number 21592221
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionUniversity of Yamanashi

Principal Investigator

MABUCHI Fumihiko  山梨大学, 大学院・医学工学総合研究部, 助教 (20322125)

Co-Investigator(Kenkyū-buntansha) SAKURADA Yoichi  山梨大学, 医学部附属病院, 助教 (90456476)
KASHIWAGI Kenji  山梨大学, 大学院・医学工学総合研究部, 准教授 (30194723)
YAMAGATA Zentaro  山梨大学, 大学院・医学工学総合研究部, 教授 (10210337)
IIJIMA Hiroyuki  山梨大学, 大学院・医学工学総合研究部, 教授 (80114362)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords緑内障 / estrogen receptor beta / ESR2 / 遺伝学 / 眼圧 / 遺伝子多型 / POAG / SNP
Research Abstract

Single nucleotide polymorphisms(SNPs) covering the whole region of estrogen receptor beta(ESR2) gene were genotyped in female patients with primary open-angle glaucoma(POAG) and the control subjects without glaucoma, and novel SNPs associated with intraocular pressure(IOP) were identified. These results strongly suggest that the ESR2 gene polymorphisms are associated with IOP regulation in women and IOP elevation in female patients with POAG.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (33 results)

All 2012 2011 2010 2009 Other

All Journal Article (15 results) (of which Peer Reviewed: 15 results) Presentation (8 results) Book (2 results) Remarks (8 results)

  • [Journal Article] Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma2012

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Journal Title

      Ophthalmology

      Volume: Vol.119(in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association between genetic variants associated with vertical cup-to-discratio and phenotypic features of primary open-angle glaucoma2012

    • Author(s)
      Fumihiko Mabuchi
    • Journal Title

      Ophthalmology

      Volume: VOL.119(in press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma2011

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: Vol.52 Issue: 7 Pages: 4626-4629

    • DOI

      10.1167/iovs.11-7382

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy2011

    • Author(s)
      Sakurada Y, Kubota T, Imasawa M, Mabuchi F, Tateno Y, Tanabe N, Iijima H
    • Journal Title

      Ophthalmology

      Volume: Vol.118 Pages: 1402-1407

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphisms in ARMS2(LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration2011

    • Author(s)
      Sakurada Y, Mabuchi F, Yoneyama S, Kubota T, Iijima H
    • Journal Title

      Am J Ophthalmol

      Volume: Vol.152 Pages: 499-499

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Lack of association of common variants on chromosome 2p with primary open-angle glaucoma in the Japanese population2010

    • Author(s)
      abuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Journal Title

      Proc Natl Acad Sci U S A

      Volume: Vol.107

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Estrogen receptor beta gene polymorphism and intraocular pressure elevation in female patients with primary open-angle glaucoma2010

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Journal Title

      Am J Ophthalmol

      Volume: Vol.149

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Writing committee for the normal tension glaucoma genetic study group of Japan glaucoma society. Genome-wide association study of normal tension glaucoma : common variants in SRBD1 and ELOVL5 contribute to disease susceptibility2010

    • Journal Title

      Ophthalmology

      Volume: Vol.117

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Lack of association of common variants on chromosome 2p with primary open-angle glaucoma in the Japanese population2010

    • Author(s)
      Fumihiko Mabuchi
    • Journal Title

      Proc NatL Acad Sci U S A

      Volume: VOL.107

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Estrogen receptor beta gene polymorphism and intraocular pressure elevation in female patients with primary open-angle glaucoma2010

    • Author(s)
      Fumihiko Mabuchi
    • Journal Title

      American Journal of Ophthalmology

      Volume: VOL.149

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study of normal tension glaucoma : common variants in SRBD1 and ELOVL5 contribute to disease susceptibility2010

    • Author(s)
      Writing committee for the normal tension glaucoma genetic study group of Japan glaucoma society
    • Journal Title

      Ophthalmology

      Volume: VOL.117

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population2009

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Journal Title

      Mol Vis

      Volume: Vol.15 Pages: 1045-1049

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy2009

    • Author(s)
      Sakurada Y, Kubota T, Imasawa M, Tsumura T, Mabuchi F, Tanabe N, Iijima H
    • Journal Title

      Retina

      Volume: Vol.29 Pages: 1522-1526

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population.2009

    • Author(s)
      Fumihiko Mabuchi
    • Journal Title

      Molecular Vision VOL.15

      Pages: 1045-1049

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy2009

    • Author(s)
      Sakurada Y
    • Journal Title

      Retina VOL.10

      Pages: 1522-1526

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Estrogen receptor beta遺伝子多型と眼圧の関連について2012

    • Author(s)
      間渕文彦,櫻田庸一,柏木賢治,山縣然太朗,飯島裕幸,塚原重雄
    • Organizer
      日本眼科学会
    • Place of Presentation
      東京
    • Year and Date
      2012-04-06
    • Related Report
      2011 Final Research Report
  • [Presentation] Gene polymorphisms associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma2011

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Organizer
      Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Montreal
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] 垂直C/D比に関与する遺伝子多型と原発開放隅角緑内障との関連について2011

    • Author(s)
      間渕文彦,櫻田庸一,柏木賢治,山縣然太朗,飯島裕幸,塚原重雄
    • Organizer
      日本緑内障学会
    • Place of Presentation
      秋田
    • Year and Date
      2011-09-24
    • Related Report
      2011 Final Research Report
  • [Presentation] 垂直C/D比に関与する遺伝子多型と原発開放隅角緑内障との関連について2011

    • Author(s)
      間渕文彦
    • Organizer
      日本緑内障学会
    • Place of Presentation
      秋田ビューホテルアトリオン(秋田)
    • Year and Date
      2011-09-24
    • Related Report
      2011 Annual Research Report
  • [Presentation] SRBD1 gene polymorphism is associated with normal tension and high tension glaucoma2010

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Organizer
      Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Washington DC
    • Year and Date
      2010-11-05
    • Related Report
      2011 Final Research Report
  • [Presentation] SRBDI gene polymorphism is associated with normal tension and high tension glaucoma2010

    • Author(s)
      Fumihiko Mabuchi
    • Organizer
      Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Walter E. Washington Convention Center (Washington DC)
    • Year and Date
      2010-11-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] Association of the LOXL1 gene polymorphism with exfoliation syndrome after intraocular surgery2009

    • Author(s)
      Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S
    • Organizer
      World Glaucoma Congress
    • Place of Presentation
      Boston
    • Year and Date
      2009-07-09
    • Related Report
      2011 Final Research Report
  • [Presentation] Association of the LOXL1 gene polymorphism with exfoliation syndrome after intraocular surgery2009

    • Author(s)
      Fumihiko Mabuchi
    • Organizer
      World Glaucoma Congress
    • Place of Presentation
      Hynes Convention Center (Boston)
    • Year and Date
      2009-07-08
    • Related Report
      2009 Annual Research Report
  • [Book] 眼科診療クオリファイ原発開放隅角緑内障(狭義)の薬物治療2012

    • Author(s)
      間渕文彦
    • Publisher
      中山書店
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Book] あたらしい眼科Q20緑内障遺伝子検査は可能か2010

    • Author(s)
      間渕文彦
    • Publisher
      メディカル葵出版
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Remarks]

    • URL

      http://erdb.yamanashi.ac.jp/rdb/A_DispInfo.Scholar?ID=11CB59E63296DFFE

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://sangaku.yamanashi.ac.jp/SearchResearcher/contents/11CB59E63296DFFE.html

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://erdb.yamanashi.ac.jp/rdb/A_DispInfo.Scholar?ID=11CB59E63296DFFE

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://sangaku.yamanashi.ac.jp/SearchResearcher/contents/11CB59E63296DFFE.html

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://erdb.yamanashi.ac.jp/rdb/A_DispInfo.Scholar?ID=11CB59E63296DFFE

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://sangaku.yamanashi.ac.jp/SearchResearcher/contents/11CB59E63296DFFE..html

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://erdb.yamanashi.ac.jp/rdb/A_DispInfo.Scholar?ID=11CB59E63296DFFE

    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://sangaku.yamanashi.ac.jp/SearchResearcher/contents/11CB59E63296DFFE.html

    • Related Report
      2009 Annual Research Report

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Published: 2009-04-01   Modified: 2016-04-21  

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