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Whole genome association study in high-altitude pulmonary edema

Research Project

Project/Area Number 22590853
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Respiratory organ internal medicine
Research InstitutionShinshu University

Principal Investigator

HANAOKA Masayuki  信州大学, 医学部, 准教授 (20334899)

Co-Investigator(Kenkyū-buntansha) OTA Masao  信州大学, 医学部, 准教授 (50115333)
ITO Michiko  信州大学, 医学部附属病院, 医員 (60569812)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Keywords高地肺水腫 / 遺伝子 / マイクロサテライトマーカー / TIMP3 / 単塩基多型 / ゲノム / マイクロサテライト / CLCNKB遺伝子 / ゲノムワイド / PCR法
Research Abstract

The aim of this study is attempt to identify the candidate human genes those might associate with the development of high-altitude pulmonary edema (HAPE). A case-control association study was performed using 400 polymorphic microsatellite markers by PCR and sequenced byGene Scan software in HAPE susceptible subjects and HAPE resistant subjects. Nine markers showed statistically significant associations with the susceptibility to HAPE, and three markers showed significant associations with the resistance to HAPE. We also evaluated the association of HAPE with six single nucleotide polymorphisms (SNPs) in tissue inhibitor of metalloproteinase 3 (TIMP3) gene, and found that one SNP (rs130293) was significantly associated with the HAPE susceptibility (P < 0.0005). This study provides the first evidence that the development of HAPE may be determined by the interaction of multiply genes and TIMP3 may influence the risk for HAPE.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (14 results)

All 2013 2012 2011 2010

All Presentation (14 results)

  • [Presentation] A Genome Wide DNA Microsatellite Association Study and Association of TIMP3 gene Polymorphism in Japanese Patients with High Altitude Pulmonary Edema (HAPE).2013

    • Author(s)
      Nobumitsu Kobayashi, Masayuki Hanaoka, Masao Ota, Fumiya Kinota, Yunden Droma, Michiko Ito, Masanori Yasuo , Yo shi hi ko Kat suyama, Hi de ki Asamura, Keishi Kubo.
    • Organizer
      5th World Symposium of Pulmonary Hypertension
    • Place of Presentation
      Nice, France
    • Year and Date
      2013-02-27
    • Related Report
      2012 Final Research Report
  • [Presentation] A genome wide DNA microsatellite association study and association of TIMP3 gene polymorphism in Japanese patients with high altitude pulmonary edema (HAPE)2013

    • Author(s)
      Kobayashi N, Hanaoka M, Ota M, Droma Y, Ito M, Katsuyama Y, Asamura H, Kubo K
    • Organizer
      5th World Symposium on Pulmonary Hypertension
    • Place of Presentation
      Nice, France
    • Related Report
      2012 Annual Research Report
  • [Presentation] 高地肺水腫の分子遺伝学的検討2012

    • Author(s)
      小林信光、花岡正幸、太田正穂、雲登卓瑪、伊東理子、勝山喜彦、小林俊夫、久保惠嗣
    • Organizer
      第32回日本登山医学会学術集会
    • Place of Presentation
      福岡市
    • Year and Date
      2012-06-16
    • Related Report
      2012 Final Research Report
  • [Presentation] 高地肺水腫の分子遺伝学的検討2012

    • Author(s)
      堀内俊道、花岡正幸、太田正穂、小林信光、雲登卓瑪、伊東理子、勝山喜彦、小林俊夫、久保惠嗣
    • Organizer
      第52回日本呼吸器学会学術講演会
    • Place of Presentation
      神戸市
    • Year and Date
      2012-04-22
    • Related Report
      2012 Final Research Report
  • [Presentation] 高地肺水腫の分子遺伝学的検討2012

    • Author(s)
      堀内俊道、花岡正幸、太田正穂、小林信光、雲登卓瑪、伊東理子、勝山喜彦、小林俊夫、久保惠嗣
    • Organizer
      第52回日本呼吸器学会学術講演会
    • Place of Presentation
      兵庫県神戸市
    • Related Report
      2012 Annual Research Report
  • [Presentation] 高地肺水腫の分子遺伝学的検討2012

    • Author(s)
      小林信光、花岡正幸、太田正穂、雲登卓瑪、伊東理子、勝山喜彦、小林俊夫、久保惠嗣
    • Organizer
      第32回日本登山医学会学術集会
    • Place of Presentation
      福岡県福岡市
    • Related Report
      2012 Annual Research Report
  • [Presentation] A Genome wide DNA Microsatellite Association Study of Japanese Patients with High alttitude pulmonary edema (HAPE).2011

    • Author(s)
      Nobumitsu Kobayashi, Masao Ota, Masayuki Hanaoka, Yunden Droma, Yoshihiko Katsuyama, Keishi Kubo.
    • Organizer
      European Respiratory Society Annual Congress
    • Place of Presentation
      Amsterdam, Holland
    • Year and Date
      2011-09-28
    • Related Report
      2012 Final Research Report
  • [Presentation] A genome wide DNA microsatellite association study of Japanese patients with high altitude pulmonary edema (HAPE)2011

    • Author(s)
      花岡正幸, ほか
    • Organizer
      European Respiratory Society
    • Place of Presentation
      オランダ・アムステルダム
    • Year and Date
      2011-09-28
    • Related Report
      2011 Annual Research Report
  • [Presentation] Genome Wide DNA Microsatellite Association Study of Japanese Patients with High Altitude Pulmonary Edema (HAPE).2011

    • Author(s)
      Nobumitsu Kobayashi, Masayuki Hanaoka, Masao Ota, Yunden Droma, Michiko Ito, Yoshihiko Katsuyama, Toshio Kobayashi, Hideki Asamura, Keishi Kubo.
    • Organizer
      2nd Congress of Asia Pacific Society for Mountain Medicine
    • Place of Presentation
      Xining, China
    • Year and Date
      2011-08-22
    • Related Report
      2012 Final Research Report
  • [Presentation] Genome wide DNA microsatellite association study of Japanese patients with high altitude pulmonary edema (HAPE)2011

    • Author(s)
      花岡正幸, ほか
    • Organizer
      Asia-Pacific Society for Mountain Medicine
    • Place of Presentation
      中国青海省・西寧市(招待講演)
    • Year and Date
      2011-08-22
    • Related Report
      2011 Annual Research Report
  • [Presentation] マイクロサテライト解析法による、日本人の高地肺水腫患者の遺伝学的検討2011

    • Author(s)
      小林信光、太田正穂、花岡正幸、雲登卓瑪、伊東理子、勝山喜彦、浅村英樹、久保惠嗣
    • Organizer
      第31回日本登山医学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2011-06-11
    • Related Report
      2012 Final Research Report
  • [Presentation] マイクロサテライト解析法による高地肺水腫の分子遺伝学的検討2011

    • Author(s)
      花岡正幸, ほか
    • Organizer
      日本登山医学会
    • Place of Presentation
      東京都・代々木
    • Year and Date
      2011-06-11
    • Related Report
      2011 Annual Research Report
  • [Presentation] Pulmonary Hypertension Associated with Respiratory Diseases2010

    • Author(s)
      花岡正幸
    • Organizer
      15^〈th〉 Congress of the Asian Pacific Society of Respirology
    • Place of Presentation
      Manila,PhihpPille
    • Year and Date
      2010-11-24
    • Related Report
      2010 Annual Research Report
  • [Presentation] Adaptation to high altitude in Sherpas: Genetic contributions of the polymorphisms in the angiotensin-converting enzyme gene and the endothelial nitric oxide synthase gene2010

    • Author(s)
      花岡正幸
    • Organizer
      The 8th Asia-Pacific Travel Health Conference
    • Place of Presentation
      奈良市
    • Year and Date
      2010-10-22
    • Related Report
      2010 Annual Research Report

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Published: 2010-11-30   Modified: 2019-07-29  

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