Instituto de Parasitología y Biomedicina "López-Neyra," CSIC, Granada, Spain.
Division of Rheumatology and Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander, Spain.
Front Immunol. 2019 Aug 2;10:1796. doi: 10.3389/fimmu.2019.01796. eCollection 2019.
Vasculitides are a heterogeneous group of low frequent disorders, mainly characterized by the inflammation of blood vessels that narrows or occlude the lumen and limits the blood flow, leading eventually to significant tissue and organ damage. These disorders are classified depending on the size of the affected blood vessels in large, medium, and small vessel vasculitis. Currently, it is known that these syndromes show a complex etiology in which both environmental and genetic factors play a major role in their development. So far, these conditions are not curable and the therapeutic approaches are mainly symptomatic. Moreover, a percentage of the patients do not adequately respond to standard treatments. Over the last years, numerous genetic studies have been carried out to identify susceptibility and biological pathways involved in vasculitis pathogenesis as well as potential genetic predictors of treatment response. The ultimate goal of these studies is to identify new therapeutic targets and to improve the use of existing drugs to achieve more effective treatments. This review will focus on the main advances made in the field of genetics and pharmacogenetics of vasculitis and their potential application for ameliorating long-term outcomes in patient management and in the development of precision medicine.
血管炎是一组罕见的疾病，主要特征为血管炎症，导致血管腔变窄或阻塞，限制血液流动，最终导致重要组织和器官损伤。这些疾病根据受影响的血管大小进行分类，分为大血管炎、中血管炎和小血管炎。目前已知这些综合征的发病机制复杂，环境和遗传因素在其发展中起着重要作用。到目前为止，这些疾病还无法治愈，治疗方法主要是对症治疗。此外，有一定比例的患者对标准治疗反应不佳。近年来，已经进行了许多遗传研究，以确定血管炎发病机制中涉及的易感性和生物学途径，以及治疗反应的潜在遗传预测因子。这些研究的最终目标是确定新的治疗靶点，并改进现有药物的使用，以实现更有效的治疗。这篇综述将重点介绍血管炎遗传学和药物遗传学领域的主要进展，及其在改善患者管理中长期预后和精准医学发展方面的潜在应用。
