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The sequence analysis of the endothelium nitric oxide synthase gene in a high altitude pulmonary edema in Japanese population.

Research Project

Project/Area Number 15K19417
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Respiratory organ internal medicine
Research InstitutionShinshu University

Principal Investigator

Kobayashi Nobumitsu  信州大学, 医学部附属病院, 助教(診療) (50447752)

Research Collaborator Hanaoka Masayuki  信州大学, 医学部内科学第一教室, 教授 (20334899)
Ota Masao  信州大学, 医学部内科学第二教室, 特任教授 (50115333)
Kinota Fumiya  信州大学, 医学部内科学第一教室, 医員 (90647257)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords高地肺水腫 / 内皮型一酸化窒素合成酵素 / NOS3 / NOS3遺伝子 / 遺伝学的検討
Outline of Final Research Achievements

In this study, we performed genetic analysis of endothelial nitric oxide synthase (eNOS) gene (NOS3) to reveal mechanism of development of high altitude pulmonary edema (HAPE). We carried out whole exon analysis in NOS3 gene of four HAPE susceptible subjects (HAPE-s) and four HAPE resistant subjects (HAPE-r).
There were 3 single nucleotide polymorphism (SNPs) (rs143324164、rs1799983、rs79467411) which cause missense mutation. In four HAPE-s subjects, two subjects of had heterozygous in each two SNPs, rs179998 and rs79467411, neither in HARE-r subjects. This result suggests that polymorphism of rs179998 and rs79467411 might correlate with development of HAPE.

Report

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

    (4 results)

All 2017

All Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results) Presentation (2 results) (of which Int'l Joint Research: 2 results,  Invited: 1 results)

  • [Journal Article] Electron Microscopy Observation of Human Pulmonary Ultrastructure in Two Patients with High-Altitude Pulmonary Edema2017

    • Author(s)
      YundenDroma,Nobumitsu Kobayashi
    • Journal Title

      High Alt Med Biol

      Volume: 18 Issue: 3 Pages: 288-291

    • DOI

      10.1089/ham.2016.0163

    • NAID

      120007113420

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic structure in the Sherpa and neighboring Nepalese populations.2017

    • Author(s)
      Cole AM,Nobumitsu Kobayashi
    • Journal Title

      BMC Genomics

      Volume: 18 Issue: 1 Pages: 102-102

    • DOI

      10.1186/s12864-016-3469-5

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] Genetic Variants in PPARA contribute to adaptation to high altitude hypoxia in Sherpas2017

    • Author(s)
      Fumiya Kinota,Nobumitsu Kobayashi
    • Organizer
      4th Congress of Asia-Pacific Society for Mountatin Mediccine
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genetic evidence for high altitude pulmonary edema in Japanese climbers2017

    • Author(s)
      Nobumitsu Kobayashi
    • Organizer
      4th Congress of Asia-Pacific Society for Mountatin Mediccine
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited

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Published: 2015-04-16   Modified: 2019-03-29  

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