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白塞病的遗传学:最新综述

Genetics in Behcet's Disease: An Update Review.

作者信息

Gao Yu, Zhong Zhenyu, Yang Peizeng

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, and Chongqing Branch of National Clinical Research Center for Ocular Diseases, Chongqing, China.

出版信息

Front Ophthalmol (Lausanne). 2022 Jun 3;2:916887. doi: 10.3389/fopht.2022.916887. eCollection 2022.

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

白塞病(BD)是葡萄膜炎中最具视力威胁的临床病症之一。尽管BD的病因发病机制仍不清楚,但越来越多的证据表明,遗传和环境因素都可能促使BD的发生。全基因组关联研究(GWAS)和候选关联研究已经确定了几个与BD密切相关的基因变异,包括人类白细胞抗原(HLA)-A02、-A03、-A24、-A26、-A31、-B15、-B27、-B35、-B49、-B51、-B57、-B58、-C0704、CIITA、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和miRNA - 146a中的变异。据报道,表观遗传修饰在BD的发生发展中也起着重要作用,包括DNA甲基化和组蛋白修饰。我们在此综述与BD发病机制相关的遗传和表观遗传因素的最新进展。

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