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寻找轴性脊柱关节炎的新遗传生物标志物。

Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

作者信息

Bugaj Bartosz, Wielińska Joanna, Bogunia-Kubik Katarzyna, Świerkot Jerzy

机构信息

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.

出版信息

J Clin Med. 2022 May 20;11(10):2912. doi: 10.3390/jcm11102912.

Abstract

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.

摘要

背景

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。

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