中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (4): 193-196.doi: 10.12144/zgmfskin201904193

• 论著 •    下一篇

107例泛发性脓疱型银屑病IL36RN基因突变检测及基因型-临床表型相关性分析

李璐璐  付希安  王真真  于功奇  刘红  张福仁   

  1. 山东省皮肤病性病防治研究所（山东省皮肤病医院），济南，250022
  • 出版日期:2019-04-15 发布日期:2019-05-16
  • 通讯作者: 刘红，E-mail：hongyue2519@hotmail.com

Detection of IL36RN gene mutation and genotype-phenotype correlation analysis in 107 cases of generalized pustular psoriasis

LI Lulu, FU Xi'an, WANG Zhenzhen, YU Gongqi, LIU Hong, ZHANG Furen   

  1. Shandong Provincial Institute of Dermatology and Venereology & Shandong Provincial Hospital for Skin Diseses, Jinan 250022，China
  • Online:2019-04-15 Published:2019-05-16
  • Contact: LIU Hong，E-mail：hongyue2519@hotmail.com

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摘要： 目的：研究IL36RN基因突变与中国汉族泛发性脓疱型银屑病（Generalized Pustular Psoriasis, GPP）的相关性，分析IL36RN基因型与GPP临床表型的关联性。方法：提取107例GPP患者的外周血DNA，进行IL36RN基因所有外显子测序，分析比较携带或不携带IL36RN基因突变以及携带隐性或杂合突变GPP患者的临床表型。结果：45例患者中检测到IL36RN基因的9个突变点（3个为新发突变点）；其中25例为携带隐性突变（纯合突变和复合杂合突变），20例携带杂合突变；分析基因型与表型之间的关系发现，IL36RN基因突变与GPP的发病年龄、合并寻常型银屑病症状的概率、疾病反复发作的概率相关，而IL36RN基因隐性突变型与疾病反复发作的概率、疾病合并系统性炎症的概率相关。结论：IL36RN基因突变不仅与GPP的发病相关，而且与GPP的临床表型有一定相关性。

关键词: 泛发性脓疱型银屑病, IL36RN, 基因型-临床表型

Abstract: Objective: To study the correlation between IL36RN gene mutation and generalized pustular psoriasis (GPP) in Chinese Han population, and to analyze the correlation between IL36RN genotype and GPP clinical phenotype. Methods: DNA from peripheral blood of 107 patients with GPP was extracted. All exons of IL36RN gene were sequenced. The clinical phenotype of the patients with IL36RN and non-IL36RN mutations carriers or IL36RN recessive and heterozygous mutations carriers were compared. Results: Nine mutation sites were found in 45 patients, including three new mutations. Of 45 patients, 25 patients with recessive mutations and 20 patients with heterozygous mutations. We found that earlier age of disease onset, larger prevalence of PV and more markedly risk of recurrent trouble were associated with IL36RN mutations, and more markedly risk of recurrent trouble and larger prevalence of systemic inflammation related to recessive mutations. Conclusion: IL36RN gene mutations is not only associated with the pathogenesis but also with the clinical phenotype of GPP.

Key words: generalized pustular psoriasis, IL36RN, genotype-clinical phenotype