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抗中性粒细胞胞浆抗体相关性血管炎的基因变异与治疗结局。

Gene variants and treatment outcomes in antineutrophil cytoplasmic antibody-associated vasculitis.

机构信息

Department of Internal Medicine, Division of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Department of Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

出版信息

Pharmacogenomics J. 2020 Dec;20(6):749-759. doi: 10.1038/s41397-020-0176-z. Epub 2020 Jul 18.

Abstract

The introduction of immunosuppressive therapy for ANCA-associated vasculitis (AAV) has greatly improved outcomes, though patients now accumulate damage from vasculitis activity and adverse effects of treatment. Prediction of treatment outcomes using gene variants might help reduce this damage by allowing for personalized treatment. Several studies have studied genetic polymorphisms in relation to treatment outcomes of AAV. This review gives an overview of these studies, discussing both gene polymorphisms associated with inflammatory pathways (potentially influencing disease outcomes such as activity, severity, and relapse risk) and pharmacogenetics (potentially influencing drug metabolism and/or drug response). Subsequently, potential benefits of testing genetic variants for AAV and the steps needed for its implementation in clinical practice are discussed. The conclusion of this review is that measurement of most polymorphisms is currently not indicated in clinical practice.

摘要

免疫抑制疗法的引入极大地改善了抗中性粒细胞胞质抗体相关性血管炎(AAV)的预后,尽管患者现在会因血管炎活动和治疗的不良反应而累积损伤。通过使用基因变异体预测治疗结果,可能有助于通过个性化治疗来减少这种损伤。已有几项研究探讨了与 AAV 治疗结果相关的遗传多态性。这篇综述概述了这些研究,讨论了与炎症途径相关的基因多态性(可能影响疾病结局,如活动度、严重程度和复发风险)和药物遗传学(可能影响药物代谢和/或药物反应)。随后,讨论了检测 AAV 遗传变异体的潜在益处以及在临床实践中实施这些检测所需的步骤。本综述的结论是,目前在临床实践中并不需要测量大多数多态性。

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