免疫调节基因是白塞病的主要遗传因素：系统评价。
Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.
作者信息
Deng Yan, Zhu Weifeng, Zhou Xiaodong
机构信息
The Second Affiliated Hospital of Nanchang University, Nanchangine>, China.
Department of Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston McGovern Medical School, USA.
出版信息
Open Rheumatol J. 2018 Jun 29;12:70-85. doi: 10.2174/1874312901812010070. eCollection 2018.
Abstract
Behcet's disease (BD) is a chronic refractory multi-system autoimmune disorder that occurs in a genetically susceptible host. Multiple genetic factors have been identified that may contribute to the pathogenesis of BD. The major genes with polymorphisms associated with BD include HLA-B and -A, CIITA, ERAP1, MICA, IL10, IL12A, IL12RB2, IL23R, MEFV, IRF8, TNFAIP3, REL, TLR4, NOD1,2, CCR1,CCR3, GIMAP1,2,4, KLRC4, STAT4, NCOA5, FOXP3, PSORS1C1, FUT2, UBAC2, SUMO4, ADO-EGR2, CEBPB-PTPN1, and JPKL-CNTN5. These genes encode proteins involved mainly in immune regulation and inflammation, and some in transcription and post-translational modification. A complete view of these BD-associated genes may provide a clue to this complex disease in terms of its pathogenesis and exploring potentially targeted therapies for BD.
摘要
白塞病（BD）是一种发生在遗传易感性宿主中的慢性难治性多系统自身免疫性疾病。已确定多种可能导致白塞病发病机制的遗传因素。与白塞病相关的具有多态性的主要基因包括HLA - B和 - A、CIITA、ERAP1、MICA、IL10、IL12A、IL12RB2、IL23R、MEFV、IRF8、TNFAIP3、REL、TLR4、NOD1、2、CCR1、CCR3、GIMAP1、2、4、KLRC4、STAT4、NCOA5、FOXP3、PSORS1C1、FUT2、UBAC2、SUMO4、ADO - EGR2、CEBPB - PTPN1以及JPKL - CNTN5。这些基因编码的蛋白质主要参与免疫调节和炎症反应，有些还参与转录和翻译后修饰。全面了解这些与白塞病相关的基因，可能为这种复杂疾病的发病机制以及探索白塞病潜在的靶向治疗方法提供线索。
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