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Identification of pulmonary emphysema-susceptibility genes and its application to DNA-based diagnosis

Research Project

Project/Area Number 20790399
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Applied pharmacology
Research InstitutionNagasaki University

Principal Investigator

NAKATOMI Katsumi  Nagasaki University, 大学院・医歯薬学総合研究科, 助教 (90457531)

Research Collaborator KOHNO Shigeru  長崎大学, 大学院・医歯薬学総合研究科, 教授 (80136647)
TSUKAMOTO Kazuhiro  長崎大学, 大学院・医歯薬学総合研究科, 教授 (30253305)
Project Period (FY) 2008 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2008: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywordsファーマコゲノミクス / 肺気腫 / 一塩基多型(SNPs) / 候補遺伝子アプローチ法 / 相関解析 / 症例-対照研究 / 遺伝子診断法 / 疾病感受性遺伝子 / 糖転移酵素遺伝子 / 一塩基型多型(SNPs)
Research Abstract

Pulmonary emphysema (PE) is a multifactorial disorder characterized by destruction of alveolar septa, loss of lung elasticity, and enlargement of alveolar airspaces. Although the precise etiology of PE remains unknown, both several environmental factors such as cigarette smoking and multiple genetic factors may contribute to the pathogenesis of PE. In order to identify unknown genetic factors, I focused on the fucosyltransferase family, intracellular molecules in the signaling pathway of TGF-β and its receptors, and cigarette smoking-induced angiogenesis and anti-stress enzymes. Thus, I examined an association between polymorphisms of 52 single nucleotide polymorphisms (SNPs) in the 21 candidate genes and susceptibility to PE using 72 Japanese PE patients and 72 age- and gender-matched healthy control subjects. All participants were former or current smokers.
Univariate logistic regression analysis revealed that FUT6, Smad2, PlGH, and MFT1 appeared to be PE-susceptibility genes. However, subsequent multivariate logistic regression analysis indicated that FUT6, PlGH, and MFT1 are genetic determinants of PE in the Japanese population. Furthermore, the polymorphism of these genes identified in this study may be useful as a DNA-based diagnostic biomarker for identifying Japanese individuals at high-risk for PE.

Report

(3 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • Research Products

    (8 results)

All 2009 Other

All Presentation (7 results) Remarks (1 results)

  • [Presentation] PIGFは肺気腫の疾患感受性遺伝子である2009

    • Author(s)
      上村理紗, 中富克己, et al.
    • Organizer
      第30回日本臨床薬理学会年会
    • Place of Presentation
      横浜
    • Year and Date
      2009-12-03
    • Related Report
      2009 Annual Research Report
  • [Presentation] A haplotype polymorphism of FUT1 is associated with susceptibility to pulmonary emphysema in the Japanese population.2009

    • Author(s)
      Uemura R, Nakatomi K, et al.
    • Organizer
      59th American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Honolulu, USA
    • Year and Date
      2009-10-22
    • Related Report
      2009 Annual Research Report
  • [Presentation] FUT1は肺気腫の疾病感受性遺伝子である2009

    • Author(s)
      上村理紗, 中富克己, 塚元和弘, et.al.
    • Organizer
      日本薬学会第129会年会
    • Place of Presentation
      京都市
    • Year and Date
      2009-03-27
    • Related Report
      2008 Annual Research Report
  • [Presentation] FUT1遺伝子は肺気腫の疾患感受性遺伝子である.2009

    • Author(s)
      上村理紗, 谷口麿美, 近藤新二, 中富克己, 河野茂, 塚元和弘
    • Organizer
      日本薬学会第129年会
    • Place of Presentation
      京都
    • Related Report
      2009 Final Research Report
  • [Presentation] A haplotype polymorphism of FUT1 is associated with susceptibility to pulmonary emphysema in the Japanese population2009

    • Author(s)
      Uemura R, Taniguchi M, Naka Y, Inamine T, Kondo S, Nakatomi K, Kohno S, Tsukamoto K
    • Organizer
      59th American Society of Human Genetics Annual Meeting
    • Place of Presentation
      in Honolulu, USA
    • Related Report
      2009 Final Research Report
  • [Presentation] PlGFは肺気腫の疾患感受性遺伝子である2009

    • Author(s)
      上村理紗, 中友里, 稲嶺達夫, 近藤新二, 中富克己, 河野茂, 塚元和弘
    • Organizer
      第30回日本臨床薬理学会年会
    • Place of Presentation
      横浜
    • Related Report
      2009 Final Research Report
  • [Presentation] PIGF遺伝子は肺気腫の発症を予測できるバイオマーカーである2009

    • Author(s)
      上村理紗, 中友里, 稲嶺達夫, 近藤新二, 中富克己, 河野茂, 塚元和弘
    • Organizer
      第26回日本薬学会九州支部総会
    • Place of Presentation
      福岡
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Remarks] 研究成果を当研究室のホームページに公開している。

    • URL

      http://www.med.nagasaki-u.ac.jp/intmed-2/index.html

    • Related Report
      2009 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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