Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors

IF 9.2 1区 医学 Q1 IMMUNOLOGY
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Abstract

Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways. Among the HLA alleles, the most consistent associations have been found with DR2 and DR3 alleles at the DRB1 locus. Moreover, several gene variants outside the MHC locus are in genes involved in NF-κB signalling, B- and T-cell function and methylation processes possibly responsible for lymphomagenesis. There is still a lack of knowledge on precise genetic patterns and prediction models of diseases, and data on pharmacogenetics is scarce. A comprehensive summary of the common genetic factors and an extensive analysis of novel epigenetic aspects is provided, together with a view on the relationships between novel therapeutic agents for pSS and genetic targets in signalling pathways, aiming at improving tailored treatment strategies in the view of a more personalized medicine.

Abstract Image

斯约格伦综合征:您一直想知道的有关遗传和表观遗传因素的所有信息
原发性斯约格伦综合征(pSS)是一种慢性、全身性自身免疫性疾病,具有广泛的腺体和腺体外特征。遗传和表观遗传因素在疾病的易感性和表型中起着重要作用。已确定有许多基因与 pSS 的发病机制有关,包括 HLA 和 HLA 外区域的基因,其中干扰素信号通路中的基因对 pSS 的发病有很大的影响。在 HLA 等位基因中,与 DRB1 基因座上的 DR2 和 DR3 等位基因的关联最为一致。此外,MHC 基因座之外的一些基因变异涉及 NF-κB 信号、B 细胞和 T 细胞功能以及可能导致淋巴瘤发生的甲基化过程。关于疾病的精确遗传模式和预测模型仍然缺乏了解,药物遗传学方面的数据也很少。本文对常见的遗传因素进行了全面总结,并对新型表观遗传学方面进行了广泛分析,同时还探讨了 pSS 新型治疗药物与信号通路中遗传靶点之间的关系,旨在改进定制治疗策略,实现更加个性化的医疗。
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来源期刊
Autoimmunity reviews
Autoimmunity reviews 医学-免疫学
CiteScore
24.70
自引率
4.40%
发文量
164
审稿时长
21 days
期刊介绍: Autoimmunity Reviews is a publication that features up-to-date, structured reviews on various topics in the field of autoimmunity. These reviews are written by renowned experts and include demonstrative illustrations and tables. Each article will have a clear "take-home" message for readers. The selection of articles is primarily done by the Editors-in-Chief, based on recommendations from the international Editorial Board. The topics covered in the articles span all areas of autoimmunology, aiming to bridge the gap between basic and clinical sciences. In terms of content, the contributions in basic sciences delve into the pathophysiology and mechanisms of autoimmune disorders, as well as genomics and proteomics. On the other hand, clinical contributions focus on diseases related to autoimmunity, novel therapies, and clinical associations. Autoimmunity Reviews is internationally recognized, and its articles are indexed and abstracted in prestigious databases such as PubMed/Medline, Science Citation Index Expanded, Biosciences Information Services, and Chemical Abstracts.
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