Carmona F David, Martín Javier, González-Gay Miguel A
a 1 Instituto de Parasitología y Biomedicina 'López-Neyra', IPBLN-CSIC, PTS Granada, Granada, Spain.
b 2 Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.
Expert Rev Clin Immunol. 2016;12(1):57-66. doi: 10.1586/1744666X.2016.1089173. Epub 2015 Sep 14.
Giant cell arteritis is a complex immune-mediated disease that involves large blood vessels in individuals older than 50 years. Recent studies have confirmed a strong association of this form of vasculitis with the HLA region, particularly with HLA class II genes. However, other non-HLA loci, such as protein tyrosine phosphatase non-receptor type 22, may also account for the susceptibility to giant cell arteritis. In addition, genetic variants located in genes encoding proinflammatory cytokines seem to influence the phenotypic expression of the disease, including the risk of severe ischemic complications, the presence of polymyalgia rheumatica and the higher incidence of relapses observed in some patients. The identification of putative genetic markers of disease severity could have clear therapeutic implications, as it may allow us to identify patients who are potentially responders to specific treatments.
巨细胞动脉炎是一种复杂的免疫介导疾病，累及50岁以上个体的大血管。最近的研究证实，这种血管炎形式与HLA区域密切相关，尤其是与HLA II类基因相关。然而，其他非HLA基因座，如蛋白酪氨酸磷酸酶非受体22型，也可能导致巨细胞动脉炎易感性。此外，位于编码促炎细胞因子基因中的遗传变异似乎会影响疾病的表型表达，包括严重缺血并发症的风险、风湿性多肌痛的存在以及在一些患者中观察到的较高复发率。确定疾病严重程度的推定遗传标记可能具有明确的治疗意义，因为这可能使我们能够识别对特定治疗有潜在反应的患者。
