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Research about etiology and prophylactic program in open angle glaucoma

Research Project

Project/Area Number 12670348
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Public health/Health science
Research InstitutionYamanashi Medical University

Principal Investigator

IIJIMA Hiroyuki (2001)  Yamanashi Medical University, Medicine, Professor, 医学部, 教授 (80114362)

間渕 文彦 (2000)  山梨医科大学, 医学部, 助手 (20322125)

Co-Investigator(Kenkyū-buntansha) KASHIWAGI Kenji  Yamanashi Medical University, Medicine, Assistant Professor, 医学部, 講師 (30194723)
YAMAGATA Zentaro  Yamanashi Medical University, Medicine, Professor, 医学部, 教授 (10210337)
飯島 裕幸  山梨医科大学, 医学部, 教授 (80114362)
Project Period (FY) 2000 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 2001: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2000: ¥2,100,000 (Direct Cost: ¥2,100,000)
KeywordsMyocilin / MYOC / Primary Open Angle Glaucoma / Normal Tension Glaucoma / Genetic Analysis / PCR-SSCP / Mutation / Japanese / PCR-SSCP法
Research Abstract

The myocilin gene was identified as a gene (MYOC) that caused open angle glaucoma. Single strand conformation polymorphism analysis and subseauent sequence analysis were performed for genotyping the myocilin gene in 119 unrelated Japanese patients with primary open angle glaucoma (POAG), 114 patients withnormal tension glaucoma (NTG), and 100 control subjects without glaucoma. Nine sequence changes, including 5 amino acid sequence changes, were identified : Promotorl-83 G→A (10 POAG, four NTG, seven control), Arg46Stop (one NTG), Arg76Lys (10 POAG, fourNTG, seven control), Thrl23Thr (one POAG, one control), Argl58Gln (one POAG, one NTG, one control), Asp20.8Glu (three POAG, four NTG, one control), Pro481Ser (one control), Ala488Ala (one POAG, two control), 1515+20 G→A. (one NTG).
Pro481Serwasnovel. Arg46Stopwas found inonly 1 patient withNTG in this study. However, the subjects without glaucoma, who were heterozygous or homozygous for Arg46Stop, were previously reported.
Arg76Lys is cons … More idered to be a non-disease-causing polymorphism and always occurred with the 1-83 (G→A) in the promoter region. This haplotype may be specific to the Asian population. Argl58Gln is an only missense sequence change found in the leucine zipper-like motif region of the myocilin in subjects showing various phenotypes. Argl58Gln is probably a rare nondisease-causing polymorphism, because it was found in a control subject, although Argl58Gln Was previously reported as a probable disease-causing mutation. When the patients with open angle glaucoma were compared with control subjects, there was a trend toward an association of Asp208Glu with the presence of glaucoma.
Interestingly, the combination of Asp208Glu and Pro481Serwas only found in a control. The interaction of Pro481Ser might have a protective effect. However, it was reported that Asp208Glu was found in five of 100 unrelated control subjects without glaucoma, which suggests that Arg208Glu is probably -a nondisease-causing polymorphism. Less

Report

(3 results)
  • 2001 Annual Research Report   Final Research Report Summary
  • 2000 Annual Research Report
  • Research Products

    (8 results)

All Other

All Publications (8 results)

  • [Publications] Fumihiko Mabuchi: "A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46(2). 85-89 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Fumihiko Mabuchi: "Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Genetics. 59(4). 263-268 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Fumihiko Mabuchi: "A sequence change (Arg 158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46 (2). 85-89 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Fumihiko Mabuchi: "Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Geneties. 59 (4). 263-268 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Fumihiko Mabuchi: "A sequence change(Arg158Gln)in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46(2). 85-89 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fumihiko Mabuchi: "Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Genetics. 59(4). 263-268 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fumihiko Mabuchi,Zentaro Yamagata,Kenji Kashiwagi,Kiyotaka Ishijima,Sa Tang,Hiroyuki Iijima,Shigeo Tsukahara: "A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46(2). 85-89 (2001)

    • Related Report
      2000 Annual Research Report
  • [Publications] Fumihiko Mabuchi,Zentaro Yamagata,Kenji Kashiwagi,Sa Tang,Hiroyuki Iijima,Shigeo Tsukahara: "Analysis of MYOC/TIGR gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Genetics. 59(in press). (2001)

    • Related Report
      2000 Annual Research Report

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Published: 2000-04-01   Modified: 2016-04-21  

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