PDF(Pubmed)
Abstract：
Behcet\'s disease (BD) is one of the most vision-threatening clinical entities of uveitis. Although the etiopathogenesis of BD remains obscure, accumulating evidence has demonstrated that both genetic and environmental factors may contribute to the development of BD. Genome-wide association studies (GWAS) and candidate association studies have identified several genetic variants strongly associated with BD, including variants in human leukocyte antigen (HLA) -A02, -A03, -A24, -A26, -A31, -B15, -B27, -B35, -B49, -B51, -B57, -B58, -C0704, CIITA, ERAP1, MICA, IL1A-IL1B, IL10, IL12, IL23R, IL-23R/IL-12RB2, IL1RL1-IL18R1, STAT4, TFCP2L1, TRAF5, TNFAIP3, CCR1/CCR3, RIPK2, ADO-ZNF365-EGR2, KLRC4, LACC1, MEFV, IRF8, FUT2, CEBPB-PTPN1, ZMIZ1, RPS6KA4, IL10RA, SIPA1-FIBP-FOSL1, VAMP1, JRKL/CTCN5, IFNGR1 and miRNA-146a. Epigenetic modifications are also reported to play essential roles in the development of BD, including DNA methylation and histone modification. We review here the recent advances in the genetic and epigenetic factors associated with the BD pathogenesis.
摘要：
Behcet病（BD）是葡萄膜炎最严重的视觉威胁临床实体之一。尽管BD的病因仍不清楚，越来越多的证据表明，遗传和环境因素都可能导致BD的发展。全基因组关联研究（GWAS）和候选关联研究已经确定了几种与BD密切相关的遗传变异。包括人类白细胞抗原（HLA）-A02，-A03，-A24，-A26，-A31，-B15，-B27，-B35，-B49，-B51，-B57，-B58，-C0704，CIITA，ERAP1MICA,IL1A-IL1B,IL10,IL12,IL23R,IL-23R/IL-12RB2,IL1RL1-IL18R1,STAT4,TFCP2L1,TRAF5,TNFAIP3,CCR1/CCR3,RIPK2,ADO-ZNF365-EGR2,KLRC4,LACC1,MEFV,IRF8,FUT2,CEBPB-PTPN1,ZMIZ1,RPS6KA4,IL10RA,SIPA1-FIBP-FOSL1、VAMP1、JRKL/CTCN5、IFNGR1和miRNA-146a。据报道，表观遗传修饰在BD的发展中起着至关重要的作用。包括DNA甲基化和组蛋白修饰。我们在此综述了与BD发病机制相关的遗传和表观遗传因素的最新进展。
