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Identification of novel responsible genes for familial adenomatous polyposis

Research Project

Project/Area Number 14570476
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Gastroenterology
Research InstitutionKyushu University

Principal Investigator

IIDA Mitsuo  Kyushu University, Graduate School of Medical Sciences, Professor, 大学院・医学研究院, 教授 (00127961)

Co-Investigator(Kenkyū-buntansha) MATSUMOTO Takayuki  Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (10278955)
ESAKI Motohiro  Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (50335957)
YADA Shinichiro  Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (00346800)
Project Period (FY) 2002 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2004: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2003: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
Keywordsfamilial adenomatous polyposis / APC gene / phospholipase A2 gene / MYH gene / MUTHY遺伝子 / 疾患修飾遺伝子
Research Abstract

We analyzed germline mutations of phospholipase (Pla2g2a) gene and MUTYH (MYH) gene in patients with familial adenomatous polyposis(FAP) by means of PCR-SSCP and direct sequence. Possible genotype-phenotype correlation was also investigated. Among 59 patients from 45 families with FAP, codon 32 in exon 3 of Pla2g2a gene was the most frequently mutated. Fundic gland polyposis was more frequent, and ampullary adenoma, gastic adenoma and osteoma were less frequent in patients with positive Pla2g2a mutation than those without. A logistic regression analysis revealed fundic gland polyposis to be dependent on Helicobacter pylori infection and gastric and ampullary adenomas to be dependent on Pla2g2a mutation. There were five missence mutations in MYH gene, among which a mutation in exon 12(H324Q) was the most frequent. However, there were no differences in genotype when patients were divided accodring to the mutation of MYH gene. There was a patient with bialleic mutations with G272Q and A359V. There was another patient with compound heterogenic mutations in P18L and G25S. These two patients were free from APC gene mutations. These findings suggest that Pla2g2a gene is one of modifier genes in FAP, and that bialleic mutation of MYH gene is responsible for FAP without APC gene mutation.

Report

(4 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • 2002 Annual Research Report
  • Research Products

    (17 results)

All 2005 2004 Other

All Journal Article (13 results) Publications (4 results)

  • [Journal Article] Effect of an NSAID sulindac on colorectal adenomas in uncolectomized familial adenomatous polyposis.2005

    • Author(s)
      Matsumoto T, Iida M, et al.
    • Journal Title

      J Gastroenterol Hepatol (accepted)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Digaostic criteria for gastrointestinal polyposis.2005

    • Author(s)
      Matsumoto T, Iida M.
    • Journal Title

      Internal Medicine (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Comparison of capsule endoscopy and enteroscopy with double-balloon method in patients with obscure bleeding and polyposis.2005

    • Author(s)
      Matsumoto T, Iida M, et al.
    • Journal Title

      Endoscopy (accepted)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Genetic diagnosis of heteditary gastrointestinal disorders.2005

    • Author(s)
      Yanaru R, Matsumoto T, Iida M.
    • Journal Title

      Saishin-Igaku (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 家族性大腸腺腫症の臨床像と遺伝子異常2004

    • Author(s)
      松本主之, 飯田三雄
    • Journal Title

      Frontier in Gastroenterology 9

      Pages: 289-300

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 家族性大腸腺腫症の臨床徴候と遺伝子変異の関係2004

    • Author(s)
      松本主之, 飯田三雄, 他
    • Journal Title

      胃と腸 39

      Pages: 1099-1112

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Annual Research Report 2004 Final Research Report Summary
  • [Journal Article] Clinical and genetic features of familial adenomatous polyposis.2004

    • Author(s)
      Matsumoto T, Iida M.
    • Journal Title

      Frontier in Gastroenterology 9

      Pages: 289-300

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Genotype-phenotype corelatiopn in familial adenomatous polyposis.2004

    • Author(s)
      Matsumoto T, Iida M, et al.
    • Journal Title

      Stomach Intestine 39

      Pages: 1099-1112

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 家族性大腸腺腫症の臨床像と遺伝子異常2004

    • Author(s)
      松本主之, 飯田三雄
    • Journal Title

      Frontiear in Gastroenterology 9

      Pages: 289-300

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Effect of an NSAID sulindac on colorectal adenomas in uncolectomized familial adenomatous polyposis

    • Author(s)
      Matsumoto T, Iida M, et al.
    • Journal Title

      J Gastroenterol Hepatol (accepted)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 消化管ポリポーシスの診断基準・病型分類・重症度

    • Author(s)
      松本主之, 飯田三雄
    • Journal Title

      内科 (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Comparison of capsule endoscopy and enteroscopy with double-balloon method in patients with obscure bleeding and polyposis

    • Author(s)
      Matsumoto T, Iida M, et al.
    • Journal Title

      Endoscopy (accepted)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 遺伝性消化管疾患の遺伝子診断の現状:消化管ポリポーシスを中心に

    • Author(s)
      矢鳴律子, 松本主之, 飯田三雄
    • Journal Title

      最新医学 (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] Matsumoto T: "Chromoscopy might improve diagnostic accuracy in cancer surveillance for ulcerative colitis"Am J Gastroenterol. 98. 1827-1833 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 松本主之: "大腸癌診断におけるX線検査の意義.診断の立場からみた内視鏡検査との比較"胃と腸. 39. 885-897 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 松本主之: "大腸ポリープの治療と大腸癌の予防"medicina. 40. 1539-1542 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Esaki M, Matsumoto T, et al.: "Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161"Diseases of the Colon and Rectum. 45. 1397-1406 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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