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Molecular genetics of pustular psoriasis

Research Project

Project/Area Number 25461695
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionYamaguchi University

Principal Investigator

MUTO Masahiko  山口大学, 医学(系)研究科(研究院), 教授 (40175625)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords膿疱性乾癬 / 原因遺伝子の同定 / 環境要因の推定 / 発症メカニズムの解明 / 遺伝子異常 / 遺伝子効果 / 環境要因 / 遺伝子素因 / IL36RN遺伝子 / CARD14遺伝子 / マラセチア菌叢解析 / 炎症性皮膚疾患 / インターロイキン8 / 劣性遺伝様式
Outline of Final Research Achievements

Generalized pustular psoriasis(GPP) is characterized by widespread sterile pustules and erythematous skin, in addition to acute onset high-grade fever. GPP is a rare intractable disease affecting less than 2,000 individuals in Japan. GPP is classified as a variant of psoriasis vulvaris which is the most common form of psoriasis? In 2011, a homozygous loss-of-function mutation in IL36RN was first identified in GPP patients. So we investigated multiple genes including IL36RN, using exsome sequencing and SNPs on 31 unrelated individuals and 2 multiplex families with GPP. The results showed that genetic mutations on CARD 14 as well as IL36RN were found. Moreover, CARD14 variant was more frequently observed in the GPP patients suffereing from preceding psoriasis vulgaris, whereas IL36RN variants were often found in the GPP patients without psoriasis vulgaris. Thus, we concluded that these mutaions of IL36RN and CARD14 might play a causal role in the development of GPP.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (14 results)

All 2016 2015 2014 2013

All Journal Article (7 results) (of which Peer Reviewed: 7 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (5 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results) Book (2 results)

  • [Journal Article] HLAからみた乾癬発症理論の現代的課題ー乾癬研究30年の軌跡ー2016

    • Author(s)
      武藤 正彦
    • Journal Title

      西日本皮膚科

      Volume: 78 Pages: 101-110

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD 14 rs 11652075.2015

    • Author(s)
      Sugiura Kazumitsu,Kitoh Toshiyuki, Watanabe Daisuke, Muto Masahiko, Akiyama Masashi
    • Journal Title

      Rheumatology

      Volume: 54 Issue: 1 Pages: 197-199

    • DOI

      10.1093/rheumatology/keu397

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 膿疱性乾癬(汎発型)診療ガイドライン2014年度版2015

    • Author(s)
      照井 正、秋山 真志、池田志斈、小澤 明、金蔵 拓郎、黒澤 美智子、小宮根 真弓、佐野 栄紀、根本 治、武藤 正彦、山西 清文、岩月 啓氏
    • Journal Title

      日本皮膚科学会雑誌

      Volume: 125 Pages: 2211-2257

    • NAID

      130005111650

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular characterization of the skin fungal microbiome in patients with psoriasis2015

    • Author(s)
      Takemoto A, Cho O, Morohoshi Y, Sugita T, Muto M
    • Journal Title

      J. Dermatol.

      Volume: 42 Issue: 2 Pages: 166-170

    • DOI

      10.1111/1346-8138.12739

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Card 14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.2014

    • Author(s)
      Sugiura Kazumitsu, Muto Masahiko, Akiyama Masashi
    • Journal Title

      Journal of Investigative Dermatology

      Volume: 134 Issue: 6 Pages: 1755-1757

    • DOI

      10.1038/jid.2014.46

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.2013

    • Author(s)
      Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M.
    • Journal Title

      J Invest Dermatol

      Volume: 133 Issue: 11 Pages: 2514-2521

    • DOI

      10.1038/jid.2013.230

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] ヒト生体試料を利用した医学研究への実践的対応2013

    • Author(s)
      武藤 正彦
    • Journal Title

      山口医学

      Volume: 62 Pages: 199-204

    • NAID

      10031196855

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] A case of codominant psoriasis vulgaris and sarcoidosis.2015

    • Author(s)
      Matsumoto Kishiko,Nakamura Akiko, Wakamatsu Kenya, Nakamura Yoshitaka, Yamaguchi Michiya, Okuda Mikako, Ichimiya Makoto, Nakamura Hiroshi, Muto Masahiko
    • Organizer
      23rd World Congress of Dermatology
    • Place of Presentation
      Vancouver, Canada
    • Year and Date
      2015-06-08
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 乾癬とHLA進化学2015

    • Author(s)
      武藤 正彦
    • Organizer
      日本皮膚科学会第377回新潟記念地方会
    • Place of Presentation
      新潟市(ホテルオークラ新潟)
    • Year and Date
      2015-04-25
    • Related Report
      2015 Annual Research Report
  • [Presentation] Searching for disease susceptibility gene to generalized pustular psoriasis.2014

    • Author(s)
      Masahiko Muto
    • Organizer
      3rd Eastern Asia Dermatology Congress
    • Place of Presentation
      ICC (Jeju, Korea)
    • Year and Date
      2014-09-24 – 2014-09-26
    • Related Report
      2014 Research-status Report
  • [Presentation] 乾癬の物理方程式を解く2014

    • Author(s)
      武藤 正彦
    • Organizer
      第29回日本乾癬学会
    • Place of Presentation
      高知市文化プラザ かるぽーと(高知市)
    • Year and Date
      2014-09-19 – 2014-09-20
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] Genetic factors related to Japanese patients affected with generalized pustular psoriasis.2013

    • Author(s)
      Muto Masahiko
    • Organizer
      2013 International Investigative Dermatology Meeting
    • Place of Presentation
      Edinburgh, Scotland
    • Related Report
      2013 Research-status Report
  • [Book] 『皮膚疾患 最新の治療2015-2016』2015

    • Author(s)
      渡辺晋一、 古川福実、 武藤正彦。
    • Total Pages
      303
    • Publisher
      南江堂
    • Related Report
      2014 Research-status Report
  • [Book] 乾癬。『今日の治療指針』2013

    • Author(s)
      武藤 正彦
    • Total Pages
      2064
    • Publisher
      医学書院
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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