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Analysis of pancreatitis-associated genetic disorders by whole exome sequencing

Research Project

Project/Area Number 23659392
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Gastroenterology
Research InstitutionTohoku University

Principal Investigator

SHIMOSEGAWA Tooru  東北大学, 病院, 教授 (90226275)

Co-Investigator(Kenkyū-buntansha) MASAMUNE Atsushi  東北大学, 大学院・医学系研究科, 准教授 (90312579)
KUME Kiyoshi  東北大学, 病院, 助教 (30431563)
Project Period (FY) 2011 – 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: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords胆道学 / 膵臓学 / 国際情報交換 / 遺伝子解析 / 次世代シークエンサー / 変異 / 膵炎 / 膵癌
Research Abstract

We performed whole exome sequencing using a next-generation sequencer. We extracted 1348 candidate genetic variants and analyzed their locations and functions. We also examined the distribution of mutations in the chymotrypsin C gene, and identified 5 novel mutations.

Report

(3 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Research-status Report
  • Research Products

    (12 results)

All 2013 2012 2011

All Journal Article (6 results) (of which Peer Reviewed: 2 results) Presentation (6 results) (of which Invited: 1 results)

  • [Journal Article] Identification ofnovel missense CTRC variants in Japanese patients with chronic pancreatitis2013

    • Author(s)
      Masamune A, Nakano E, Kume K, Kakuta Y, Ariga H, Shimosegawa T
    • Journal Title

      Gut

      Volume: 62 Pages: 653-654

    • Related Report
      2012 Final Research Report
  • [Journal Article] PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan2013

    • Author(s)
      Masamune A, Nakano E, Kume K, Kakuta Y, Shimosegawa T
    • Journal Title

      Gut

      Volume: (In press) Issue: 2 Pages: 366-366

    • DOI

      10.1136/gutjnl-2013-304925

    • Related Report
      2012 Final Research Report
  • [Journal Article] Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis2013

    • Author(s)
      Masamune A, Nakano E, Kume K, Kakuta Y, Ariga H, Shimosegawa T
    • Journal Title

      Gut

      Volume: 62 Issue: 4 Pages: 653-654

    • DOI

      10.1136/gutjnl-2012-303860

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic background is different between sentinel and recurrent acute pancreatitis.2011

    • Author(s)
      正宗 淳
    • Journal Title

      J Gastroenterol Hepatol

      Volume: 26 Issue: 6 Pages: 729-738

    • DOI

      10.1111/j.1440-1746.2011.06691.x

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] 遺伝子多型は膵炎発症にどのように関与するか2011

    • Author(s)
      粂 潔
    • Journal Title

      分子消化器病

      Volume: 8 Pages: 220-226

    • Related Report
      2011 Research-status Report
  • [Journal Article] 急性膵炎・慢性膵炎に関連する遺伝子多型2011

    • Author(s)
      正宗 淳
    • Journal Title

      肝・胆・膵

      Volume: 62 Pages: 967-975

    • Related Report
      2011 Research-status Report
  • [Presentation] 次世代シークエンサーを用いた新たな膵炎関連遺伝子CTRC遺伝子変異全症例アルコール性非アルコール性健常対照群の同定2013

    • Author(s)
      粂潔、正宗淳、下瀬川徹
    • Organizer
      第99回日本消化器病学会総会
    • Place of Presentation
      鹿児島
    • Year and Date
      2013-03-21
    • Related Report
      2012 Final Research Report
  • [Presentation] 次世代シークエンサーを用いた新たな膵炎関連遺伝子異常の同定2013

    • Author(s)
      粂 潔
    • Organizer
      第99回日本消化器病学会総会
    • Place of Presentation
      鹿児島
    • Related Report
      2012 Annual Research Report
  • [Presentation] 次世代シークエンサーを用いた新たな膵炎関連遺伝子の同定2012

    • Author(s)
      粂潔、正宗淳、下瀬川徹
    • Organizer
      第20回浜名湖シンポジウム
    • Place of Presentation
      浜松
    • Year and Date
      2012-12-22
    • Related Report
      2012 Final Research Report
  • [Presentation] Geographical differences in the genetics ofpancreatitis2012

    • Author(s)
      Masamune A, Shimosegawa T
    • Organizer
      7th International Symposium on Inherited Diseases of the Pancreas
    • Place of Presentation
      Prague, Czech Republic
    • Year and Date
      2012-06-23
    • Related Report
      2012 Final Research Report
  • [Presentation] Geographical differences in the genetics of pancreatitis2012

    • Author(s)
      Masamune A
    • Organizer
      7th International Symposium on Inherited Diseases of the Pancreas
    • Place of Presentation
      Prague, Czech Republic
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 慢性膵炎における遺伝子異常2011

    • Author(s)
      粂 潔
    • Organizer
      膵臓学会
    • Place of Presentation
      弘前
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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