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Usefulness of vasculitis biomarkers in the era of the personalized medicine.
Autoimmunity Reviews ( IF 9.2 ) Pub Date : 2020-03-12 , DOI: 10.1016/j.autrev.2020.102514
Elena Csernok 1 , Bernhard Hellmich 1
Affiliation  

In recent years, insight into immune pathogenesis and treatment of primary systemic vasculitides (PSV) has increased considerably, and has led to the development of many clinically relevant biomarkers. This review aims to provide an update on the main biomarkers discovered and their potential application to precision medicine in vasculitis. Genetic and molecular profiling of patients and promising biomarkers discoveries are very important for personalized medicine; however, there are very limited data in PSV. Genetic studies including mainly genome-wide association studies (GWAS) had led to important discoveries in disease pathogenesis of PSV while whole exome sequencing studies lead to discovery of monogenic vasculitides. Although there are numerous studies addressing novel biomarkers in PSV, few of these biomarkers are currently being used in routine clinical practice in the management of patients with PSV. Current studies indicate that ANCA types identify distinct prognostic subsets of ANCA vasculitis patients. Today, biomarkers-driven treatment algorithms are not available in PSV.

中文翻译:

血管炎生物标志物在个性化医学时代的有用性。

近年来,对免疫发病机制和原发性系统性血管炎(PSV)的治疗的见识已大大增加,并导致了许​​多临床相关生物标志物的发展。这项审查旨在提供最新发现的主要生物标志物及其在血管炎的精确医学中的潜在应用。患者的遗传和分子谱分析以及有前途的生物标志物发现对于个性化医学非常重要;但是,PSV中的数据非常有限。遗传研究主要包括全基因组关联研究(GWAS),已导致PSV疾病发病机理的重要发现,而全外显子组测序研究则导致了单基因血管炎的发现。尽管有许多研究针对PSV中的新型生物标志物,目前,这些生物学标记物很少在常规临床实践中用于PSV患者的治疗。当前的研究表明,ANCA类型可确定ANCA血管炎患者的不同预后亚型。如今,生物标志物驱动的治疗算法在PSV中不可用。
更新日期:2020-04-20
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