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脓疱型银屑病的易感基因研究进展

Research Progress in Susceptible Genes of Pustular Psoriasis
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摘要 脓疱型银屑病(PP)是较少见的具有生命威胁的银屑病类型,PP与遗传因素关系密切。编码白细胞介素36受体拮抗剂(IL36RN)基因、衔接蛋白复合体1-σ3亚单位异构体(AP1S3)基因和细胞凋亡募集结构域家族成员14(CARD14)基因等与PP的发病相关,其中IL36RN基因突变主要与单独型泛发型脓疱型银屑病(GPP)有关;AP1S3基因缺陷将破坏Toll样受体3向核内体易位并导致下游信号转导异常; CARD14基因突变主要与寻常型银屑病(PV)伴发GPP关系密切。基因突变位点和突变发生率随地域、种族以及是否伴发PV而不同。 Pustular psoriasis(PP) is a rare and life-threatening form of psoriasis that has been shown to be closely linked to genetic factors.Currently known susceptibility genes of PP include interleukin-36 receptor antagonist(IL36RN) gene,caspase recruitment domain-containing protein 14(CARD14) gene,adaptor protein complex 1(AP-1) subunit sigma-3(AP1S3) gene and other susceptible genes.IL36RN gene mutation is mainly associated with generalized pustular psoriasis(GPP) alone;AP1S3 gene defect impairs Toll-like receptor 3 trafficking,leading to an abnormal downstream signal transduction;CARD14 gene mutation is closely associated with psoriasis vulgaris(PV) accompanied with GPP.The location and frequency of mutations vary with region, ethnicity,and PV existence.
作者 崔梓榆 韩建文 CUI Ziyu;HAN Jianwen(Department of Dermatology,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)
出处 《医学综述》 2019年第5期833-838,844,共7页 Medical Recapitulate
基金 国家自然科学基金(81660513) 内蒙古自治区自然科学基金(2018MS08030)
关键词 脓疱型银屑病 泛发型脓疱型银屑病 白细胞介素36受体拮抗剂基因 细胞凋亡募集结构域家族成员14基因 衔接蛋白复合体1-σ3亚单位异构体基因 Pustular psoriasis Generalized pustular psoriasis Interleukin-36 receptor antagonist gene Caspase recruitment domain-containing protein 14 gene Adaptor protein complex 1 subunit sigma-3 gene
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