系统性红斑狼疮、类风湿性关节炎、系统性硬化症和Sjögren综合征的遗传学综述。

IF 8.4 2区 医学 Q1 ALLERGY Clinical Reviews in Allergy & Immunology Pub Date : 2023-06-01 DOI:10.1007/s12016-022-08951-z
Lourdes Ortíz-Fernández, Javier Martín, Marta E Alarcón-Riquelme
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引用次数: 10

摘要

系统性红斑狼疮、系统性硬化症、类风湿关节炎和Sjögren综合征是四种主要的自身免疫性风湿病,其特征是存在自身抗体,由免疫系统失调引起,导致各种临床表现。这些疾病的病因复杂,受多种环境和遗传因素的强烈影响。人类白细胞抗原(HLA)区域是第一个被确定为相关的位点,并且仍然是这些疾病的最强易感因素,特别是HLA II类基因,包括DQA1、DQB1和DRB1,但I类基因也有相关。在过去的二十年中,对这些疾病的遗传成分进行了广泛的研究,并发现了数百种非hla风险遗传变异。此外,人们普遍认为,自身免疫性风湿性疾病具有共同的分子疾病途径,如干扰素(IFN) I型途径,这反映在共同的遗传背景中。一些众所周知的自身免疫性风湿性疾病的多效性位点的例子是HLA区域,DNASEL13, TNIP1和IRF5等。确定遗传关联背后的因果分子机制仍然是一个挑战。然而,最近通过小鼠模型和基因座的功能研究取得了进展。在这里,我们提供了这四种自身免疫性风湿性疾病的遗传结构的最新概述,特别关注HLA区域。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren's Syndrome.

Systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, and Sjögren's syndrome are four major autoimmune rheumatic diseases characterized by the presence of autoantibodies, caused by a dysregulation of the immune system that leads to a wide variety of clinical manifestations. These conditions present complex etiologies strongly influenced by multiple environmental and genetic factors. The human leukocyte antigen (HLA) region was the first locus identified to be associated and still represents the strongest susceptibility factor for each of these conditions, particularly the HLA class II genes, including DQA1, DQB1, and DRB1, but class I genes have also been associated. Over the last two decades, the genetic component of these disorders has been extensively investigated and hundreds of non-HLA risk genetic variants have been uncovered. Furthermore, it is widely accepted that autoimmune rheumatic diseases share molecular disease pathways, such as the interferon (IFN) type I pathways, which are reflected in a common genetic background. Some examples of well-known pleiotropic loci for autoimmune rheumatic diseases are the HLA region, DNASEL13, TNIP1, and IRF5, among others. The identification of the causal molecular mechanisms behind the genetic associations is still a challenge. However, recent advances have been achieved through mouse models and functional studies of the loci. Here, we provide an updated overview of the genetic architecture underlying these four autoimmune rheumatic diseases, with a special focus on the HLA region.

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来源期刊
CiteScore
22.30
自引率
1.10%
发文量
58
审稿时长
6-12 weeks
期刊介绍: Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership. The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.
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