Division of Rheumatology, IIS-Fundación Jiménez Díaz, Madrid, Spain; Medicine and Psychiatry Department, University of Cantabria, Santander, Spain.
Division of Rheumatology, IIS-Fundación Jiménez Díaz, Madrid, Spain.
Best Pract Res Clin Rheumatol. 2024 Dec;38(4):101969. doi: 10.1016/j.berh.2024.101969. Epub 2024 Jul 2.
Systemic vasculitis encompasses a wide range of conditions characterized by varying degrees of inflammation in blood vessels. Although the etiology of vasculitis remains unclear, accumulated data suggest that it is triggered in genetically predisposed individuals by the concurrence of certain environmental factors. The importance of the genetic component has been consistently supported by evidence of familial aggregation, differential prevalence by ethnicity, and multiple genetic associations with disease susceptibility and severity reported in recent years. The strongest association signals in most vasculitides correspond to genetic variants within the HLA region, suggesting an important role of the immune system in its pathophysiology. However, each type of vasculitis has distinct defining HLA association markers, likely due to disease-specific differences in antigenic drivers. Furthermore, other genetic polymorphisms located outside the HLA region play an important role in susceptibility to different vasculitides. More recent research has assessed the shared genetic susceptibility evident across different vasculitides. Future studies should focus on the identification of genetic markers that can serve as reliable biomarkers for early diagnosis, prognosis, and treatment response in systemic vasculitis.
系统性血管炎涵盖了广泛的疾病,其特征是血管炎症的程度不同。尽管血管炎的病因尚不清楚,但越来越多的数据表明,它是由遗传易感性个体在某些环境因素的共同作用下引发的。遗传因素的重要性一直得到家族聚集、不同种族的患病率差异以及近年来报道的与疾病易感性和严重程度相关的多种遗传关联的证据的支持。在大多数血管炎中,最强的关联信号对应于 HLA 区域内的遗传变异,这表明免疫系统在其病理生理学中起着重要作用。然而,每种血管炎都有独特的 HLA 关联标志物,这可能是由于抗原驱动因素的疾病特异性差异所致。此外,HLA 区域外的其他遗传多态性也在不同血管炎的易感性中发挥重要作用。最近的研究评估了不同血管炎之间明显的共享遗传易感性。未来的研究应集中于确定遗传标记,这些标记可作为系统性血管炎早期诊断、预后和治疗反应的可靠生物标志物。