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Current State of Precision Medicine in Primary Systemic Vasculitides


Current State of Precision Medicine in Primary Systemic Vasculitides

Erkan Demirkaya et al. Front Immunol.


Precision medicine (PM) is an emerging data-driven health care approach that integrates phenotypic, genomic, epigenetic, and environmental factors unique to an individual. The goal of PM is to facilitate diagnosis, predict effective therapy, and avoid adverse reactions specific for each patient. The forefront of PM is in oncology; nonetheless, it is developing in other fields of medicine, including rheumatology. Recent studies on elucidating the genetic architecture of polygenic and monogenic rheumatological diseases have made PM possible by enabling physicians to customize medical treatment through the incorporation of clinical features and genetic data. For complex inflammatory disorders, the prevailing paradigm is that disease susceptibility is due to additive effects of common reduced-penetrance gene variants and environmental factors. Efforts have been made to calculate cumulative genetic risk score (GRS) and to relate specific susceptibility alleles for use of target therapies. The discovery of rare patients with single-gene high-penetrance mutations informed our understanding of pathways driving systemic inflammation. Here, we review the advances in practicing PM in patients with primary systemic vasculitides (PSVs). We summarize recent genetic studies and discuss current knowledge on the contribution of epigenetic factors and extracellular vesicles (EVs) in disease progression and treatment response. Implementation of PM in PSVs is a developing field that will require analysis of a large cohort of patients to validate data from genomics, transcriptomics, metabolomics, proteomics, and epigenomics studies for accurate disease profiling. This multi-omics approach to study disease pathogeneses should ultimately provide a powerful tool for stratification of patients to receive tailored optimal therapies and for monitoring their disease activity.

Keywords: epigenetics; extracellular vesicles; genome-wide association studies; monogenic systemic autoinflammatory diseases; precision medicine; vasculitides; vasculitis.

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    1. Berman JJ. Precision Medicine and the Reinvention of Human Disease. London: Elsevier; (2018). 10.1016/B978-0-12-814393-3.00008-1 - DOI
    1. Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, et al. . 2012 revised international chapel hill consensus conference nomenclature of vasculitides. Arthr Rheumat. (2013) 65:1–11. 10.1002/art.37715 - DOI - PubMed
    1. Institute NNHGR. Genome-Wide Association Studies Fact Sheet. (2019). Available online at: (accessed May 01, 2019).
    1. Gutierrez-Arcelus M, Rich SS, Raychaudhuri S. Autoimmune diseases - connecting risk alleles with molecular traits of the immune system. Nat Rev Genet. (2016) 17:160–74. 10.1038/nrg.2015.33 - DOI - PMC - PubMed
    1. Burgner D, Davila S, Breunis WB, Ng SB, Li Y, Bonnard C, et al. . A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. PLoS Genet. (2009) 5:e1000319. 10.1371/journal.pgen.1000319 - DOI - PMC - PubMed

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