Molecular genetics of pustular psoriasis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461695
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Yamaguchi 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
• 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

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.

Free Research Field

皮膚科学