Bugaj Bartosz, Wielińska Joanna, Bogunia-Kubik Katarzyna, Świerkot Jerzy
Department of Rheumatology and Internal Medicine, Wroclaw Medical University, Borowska 213, 50-556 Wroclaw, Poland.
Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, R. Weigla 12, 53-114 Wroclaw, Poland.
J Clin Med. 2022 May 20;11(10):2912. doi: 10.3390/jcm11102912.
Background: Axial spondyloarthritis (axSpA) is a chronic inflammatory condition of the spine. In addition to musculoskeletal symptoms, there are also extra-articular manifestations. The aim of this study was to search for new biomarkers associated with the clinical presentation and treatment response in axSpA patients. Methods: In this study, 106 axSpA patients and 110 healthy controls were enrolled. Six single-nucleotide polymorphisms (SNPs) were selected for genotyping: ERAP1 rs2287987, ERAP2 rs2549782, TNF rs1800629, TNFRSF1A rs767455, TNFRSF1B rs1061622, and FCGR2A rs1801274. Participants were examined at baseline and after 12 and 24 weeks of anti-TNF therapy. Results: SNPs associated with high axSpA initial activity were TNFRSF1A rs767455 and TNFRSF1B rs1061622 (p < 0.008). The ERAP1 rs2287987 AA genotype was more frequently observed in patients with enthesitis (AA vs. G+, p = 0.049), while the TNFRSF1B rs1061622 GG genotype was more common in participants with uveitis (GG vs. TT, p = 0.042). Potential in predicting anti-TNF treatment response was demonstrated by ERAP1 rs2287987, ERAP2 rs2549782, TNFRSF1B rs1061622, and FCGR2A rs1801274. Conclusions: SNPs can be used to identify patients at risk of severe disease to initiate treatment earlier. Genetic testing will allow clinicians to choose the right drug for the patient.
中轴型脊柱关节炎(axSpA)是一种脊柱的慢性炎症性疾病。除肌肉骨骼症状外,还存在关节外表现。本研究的目的是寻找与axSpA患者临床表现和治疗反应相关的新生物标志物。方法:本研究纳入了106例axSpA患者和110名健康对照。选择6个单核苷酸多态性(SNP)进行基因分型:ERAP1 rs2287987、ERAP2 rs2549782、TNF rs1800629、TNFRSF1A rs767455、TNFRSF1B rs1061622和FCGR2A rs1801274。在基线以及抗TNF治疗12周和24周后对参与者进行检查。结果:与axSpA高初始活动相关的SNP为TNFRSF1A rs767455和TNFRSF1B rs1061622(p < 0.008)。在附着点炎患者中更频繁观察到ERAP1 rs2287987 AA基因型(AA vs. G+,p = 0.049),而在葡萄膜炎参与者中TNFRSF1B rs1061622 GG基因型更常见(GG vs. TT,p = 0.042)。ERAP1 rs2287987、ERAP2 rs2549782、TNFRSF1B rs1061622和FCGR2A rs1801274显示出预测抗TNF治疗反应的潜力。结论:SNP可用于识别重症疾病风险患者以便更早开始治疗。基因检测将使临床医生能够为患者选择合适的药物。