title: Mutation analysis of IL36RN gene in Japanese patients with palmoplantar pustulosis.
abstract: Loss-of-function mutations of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), have been reported as major pathogenic causes of generalized pustular psoriasis (GPP), especially in cases lacking previous histories of psoriasis vulgaris. Palmoplantar pustulosis (PPP), which is traditionally included among GPP-related diseases, has a controversial association with IL36RN. While a negative view about the said association has been recently published from Europe, variations of the IL36RN gene show great ethnic differences. In this study, we performed mutation analysis of the IL36RN gene in 88 Japanese patients with PPP and identified three types of single base substitutions in four patients, namely, p.Pro82Leu in two patients, p.Asn47Ser in one and p.Thr123Met in another. All variations were heterozygous and different from previous European reports. We compared the immunohistochemical findings of IL-36Ra on patients with and without variation of the IL36RN gene; however, no significant differences were observed. Our data and the previous European study suggest that PPP is not associated with mutations of the IL36RN gene.
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Noriki
authors.initials: N
authors.lastname: Fujimoto
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Kabuto
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nakanishi
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007378:Interleukins / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011565:Psoriasis / Q000097:blood / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: C122187:IL36RN protein, human; D007378:Interleukins
keywords: 
  IL36RN
  ; Japanese; generalized pustular psoriasis; immunohistochemistry; palmoplantar pustulosis