title: Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris.
abstract: BACKGROUND
  Generalized pustular psoriasis (GPP) is a rare type of psoriasis with potentially life-threatening implications. Mutations in IL36RN gene have been suggested to be causative or predisposing factors for GPP.
  
  
  OBJECTIVE
  To evaluate the genetic heterogeneity of GPP, PV and GPP alone, GPP with PV.
  
  
  METHODS
  We performed a sanger sequencing identify IL36RN mutations in 62 Chinese Han patients with sporadic GPP, including 17 GPP without psoriasis vulgaris (PV) (GPP alone) cases vs. 45 GPP with preceding, later or accompanied by PV (GPP with PV) cases; 16 patients with pediatric-onset GPP (PGPP) vs. 46 adult-onset GPP (AGPP). We included 96 healthy controls and 174 sporadic patients with PV.
  
  
  RESULTS
  We found 2 new variants and 4 known IL36RN variants in 29 GPP patients, 18 individuals carried recessive (homozygous/compound heterozygous) alleles and 11 cases harbored a single heterozygous change. Twelve PV patients and six controls harbored a single heterozygous for three out of the six variants. Significant differences were observed between GPP and PV groups, GPP alone and GPP with PV groups when compared frequencies of IL36RN variants, but we did not found association between PGPP and AGPP groups.
  
  
  CONCLUSIONS
  Our study provided more evidence that GPP and PV are distinct subtypes of psoriasis caused by different pathogenesis, and GPP alone could be regarded as an especial entities of GPP which is different from GPP with PV on the etiology.
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong, China.
authors.forename: Xiuyan
authors.initials: X
authors.lastname: Li
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Mingfei
authors.initials: M
authors.lastname: Chen
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Xi'an
authors.initials: X
authors.lastname: Fu
authors.affiliation: School of Medicine, Shandong University, Jinan, Shandong, China.
authors.forename: Qilin
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Zhenzhen
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Gongqi
authors.initials: G
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Yongxiang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong, China.
authors.forename: Peipei
authors.initials: P
authors.lastname: Qin
authors.affiliation: Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Weizhi
authors.initials: W
authors.lastname: Wu
authors.affiliation: Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Futang
authors.initials: F
authors.lastname: Pan
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Liu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China; Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China. Electronic address: zhangfuren@hotmail.com.
authors.forename: Furen
authors.initials: F
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D044466:Asian People / Q000235:genetics; D002415:Cats; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007378:Interleukins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011565:Psoriasis / Q000235:genetics*
chemical_list: C122187:IL36RN protein, human; D007378:Interleukins
keywords: GPP with preceding, later or accompanied by PV (GPP with PV); GPP without psoriasis PV (GPP alone); Generalized pustular psoriasis (GPP); Interleukin 36 receptor antagonist (IL36RN); Mutation analysis; Psoriasis vulgaris (PV)