类风湿性关节炎的遗传学。

IF 4.5 2区 医学 Q1 RHEUMATOLOGY Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-01 DOI:10.1016/j.berh.2024.101968
Seema D Sharma, Shek H Leung, Sebastien Viatte
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引用次数: 0

摘要

在过去的四十年中,针对类风湿关节炎患者群体开展了大量的遗传关联研究。这些研究强调了疾病发病机制的关键方面,并提出了致病机制。在这篇综述中,我们将讨论在了解类风湿性关节炎易感性、严重性和治疗反应的遗传结构方面取得的主要进展,并解释遗传学如何支持当前的疾病发病机制和结果模型。我们概述了未来的研究方向,如孟德尔随机化,并提出了一些潜在的临床转化途径,包括风险和结果预测、患者治疗反应分层和药理应用。
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Genetics of rheumatoid arthritis.

In the past four decades, a plethora of genetic association studies have been carried out in cohorts of patients with rheumatoid arthritis. These studies have highlighted key aspects of disease pathogenesis and suggested causal mechanisms. In this review, we discuss major advances in our understanding of the genetic architecture of rheumatoid arthritis susceptibility, severity and treatment response and explain how genetics supports current models of disease pathogenesis and outcome. We outline future research directions, like Mendelian randomisation, and present a number of potential avenues for clinical translation, including risk and outcome prediction, patient stratification into treatment response groups and pharmacological applications.

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来源期刊
CiteScore
9.40
自引率
0.00%
发文量
43
审稿时长
27 days
期刊介绍: Evidence-based updates of best clinical practice across the spectrum of musculoskeletal conditions. Best Practice & Research: Clinical Rheumatology keeps the clinician or trainee informed of the latest developments and current recommended practice in the rapidly advancing fields of musculoskeletal conditions and science. The series provides a continuous update of current clinical practice. It is a topical serial publication that covers the spectrum of musculoskeletal conditions in a 4-year cycle. Each topic-based issue contains around 200 pages of practical, evidence-based review articles, which integrate the results from the latest original research with current clinical practice and thinking to provide a continuous update. Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. The review articles seek to address the clinical issues of diagnosis, treatment and patient management. Management is described in practical terms so that it can be applied to the individual patient. The serial is aimed at the physician in both practice and training.
期刊最新文献
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