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.
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Hessels, A.C., Sanders, J.S.F., Rutgers, A. et al. Gene variants and treatment outcomes in antineutrophil cytoplasmic antibody-associated vasculitis. Pharmacogenomics J 20, 749–759 (2020). https://doi.org/10.1038/s41397-020-0176-z
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DOI: https://doi.org/10.1038/s41397-020-0176-z
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