Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland.
Department of Rheumatology and Internal Medicine, Wroclaw Medical University, Wroclaw, Poland.
Immunol Res. 2024 Aug;72(4):614-625. doi: 10.1007/s12026-024-09488-3. Epub 2024 May 7.
Various lymphocyte subpopulations, including NK cells as well as γδ T cells, have been considered an important element in the pathogenesis of autoimmune, inflammatory, rheumatic diseases, such as rheumatoid arthritis (RA) and ankylosing spondylitis (AS). The aim of this study was to assess the potential role of polymorphic variations in the genes coding for three NK and γδ T cell receptors: NCR3, FCγR3A, and DNAM-1 (rs1052248, rs396991, and rs763361, respectively) in the disease susceptibility and the efficacy of treatment with TNF inhibitors. The study included 461 patients with RA, 168 patients with AS, and 235 voluntary blood donors as controls. The NCR3 rs1052248 AA homozygosity prevailed in RA in patients lacking rheumatoid factor (p = 0.044) as well as in those who manifested the disease at a younger age (p = 0.005) and had higher CRP levels after 12 weeks of anti-TNF therapy (p = 0.021). The FCγR3A rs396991 polymorphism was associated with pain visual analogue scale (VAS) values before the initiation of anti-TNF treatment. Lower VAS values were observed in the GG homozygous RA patients (p = 0.024) and in AS patients with the TT genotype (p = 0.012). Moreover, AS heterozygous patients with the TG genotype presented higher CRP levels in the 12th week of anti-TNF treatment (p = 0.021). The findings suggest that the NCR3 rs1052248 AA homozygosity may have an adverse effect on RA, while the T allele potentially plays a protective role in the development of AS. Moreover, the rs1052248 T allele and TT genotype appear to have a favorable impact on the response to anti-TNF therapy in RA patients.
各种淋巴细胞亚群,包括 NK 细胞和 γδ T 细胞,被认为是自身免疫、炎症性、风湿性疾病(如类风湿关节炎 (RA) 和强直性脊柱炎 (AS))发病机制中的重要因素。本研究旨在评估编码三种 NK 和 γδ T 细胞受体(NCR3、FCγR3A 和 DNAM-1)的基因多态性变异在疾病易感性和 TNF 抑制剂治疗效果中的潜在作用。该研究纳入了 461 例 RA 患者、168 例 AS 患者和 235 名自愿献血者作为对照。在缺乏类风湿因子的 RA 患者(p=0.044)和发病年龄较小(p=0.005)以及抗 TNF 治疗 12 周后 CRP 水平较高的患者(p=0.021)中,NCR3 rs1052248 AA 纯合子更为常见。FCγR3A rs396991 多态性与抗 TNF 治疗前的疼痛视觉模拟量表 (VAS) 值相关。RA 患者 GG 纯合子(p=0.024)和 AS 患者 TT 基因型(p=0.012)的 VAS 值较低。此外,AS 杂合子患者携带 TG 基因型在抗 TNF 治疗的第 12 周时 CRP 水平较高(p=0.021)。研究结果表明,NCR3 rs1052248 AA 纯合子可能对 RA 有不利影响,而 T 等位基因可能对 AS 的发病具有保护作用。此外,rs1052248 T 等位基因和 TT 基因型似乎对 RA 患者抗 TNF 治疗的反应有有利影响。