Molecular genetics of pustular psoriasis
| Project/Area Number |
25461695
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Yamaguchi University |
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Principal Investigator |
MUTO Masahiko 山口大学, 医学(系)研究科(研究院), 教授 (40175625)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| 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)
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| 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 |
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| 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.
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Report
(4 results)
Research Products
(14 results)
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[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.
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Journal Title
J Invest Dermatol
Volume: 133
Issue: 11
Pages: 2514-2521
DOI
Related Report
Peer Reviewed
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[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
Int'l Joint Research
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[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
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[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
Invited
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