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干燥综合征的遗传学研究:现状与展望。

Genetics in Sjögren's syndrome: where we are and where we go.

机构信息

Arthritis & Clin. Immunology Program, Oklahoma Med. Research Foundation; Depts. of Medicine and Pathology, College of Medicine, Univ. of Oklahoma Health Sciences Center; Research & Medical Services, Oklahoma City US Dept. of Veterans Affairs Center, USA.

出版信息

Clin Exp Rheumatol. 2019 May-Jun;37 Suppl 118(3):234-239. Epub 2019 Aug 28.

Abstract

Sjögren's syndrome is a complex autoimmune disease that involves dysregulation of immune responses that preferentially target exocrine glands. Systemic manifestations vary and may involve nearly every organ system. Genetic studies to date are in their infancy relative to other autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis, each with more than 100 genetic associations now established. However, recent work in SS has successfully established associations that shed light on pathophysiology and implicate aberrant innate and adaptive immune responses. In this review, we provide an overview of genetic approaches used to identify risk variants in SS, discuss major findings and their relevance to SS, and describe the future directions that are likely to lead to understanding fundamental causes of this disease and new opportunities for improving clinical care.

摘要

干燥综合征是一种复杂的自身免疫性疾病,涉及免疫反应的失调,这些反应优先针对外分泌腺。全身表现多种多样,可能涉及几乎每一个器官系统。与其他自身免疫性疾病(如系统性红斑狼疮和类风湿关节炎)相比,迄今为止的遗传研究还处于起步阶段,后者已经确定了 100 多种以上的遗传关联。然而,最近在 SS 中的研究工作成功地建立了关联,这些关联揭示了病理生理学,并暗示了先天和适应性免疫反应的异常。在这篇综述中,我们提供了用于识别 SS 中风险变异的遗传方法概述,讨论了主要发现及其与 SS 的相关性,并描述了可能导致理解这种疾病根本原因和改善临床护理新机会的未来方向。

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