Institute of Human Genetics, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Clinic of Allergy and Immunology, University Clinical Center of Serbia, 11000 Belgrade, Serbia.
Int J Mol Sci. 2023 Jul 10;24(14):11292. doi: 10.3390/ijms241411292.
Systemic lupus erythematosus (SLE) is characterized by an imbalance between proinflammatory and anti-inflammatory mediators. Single-nucleotide polymorphisms (SNPs) in genes coding , , and could affect their expression or function and disrupt immune homeostasis. We aimed to analyze the associations of , , and polymorphisms/haplotypes with patients' susceptibility to and clinical manifestations of SLE. Our study included 103 SLE patients and 99 healthy controls. The genotypes of the selected polymorphisms within (rs10892202, rs4252270, rs3135932, rs2228055, rs2229113, and rs9610), (rs999788, rs2834167, and rs1058867), and (rs3795299 and rs16829204) genes were determined by TaqMan Assays. rs1058867 G allele carriers were significantly more frequent among the controls than among the SLE patients (76.8% vs. 61.2%; = 0.017, OR = 0.477, 95% CI: 0.258-0.879). The CAA haplotype was more frequent among the SLE patients than in the control group (42.7% vs. 30.7%; = 0.027). The rs3795299 C allele and rs16829204 CC genotype were associated with Hashimoto thyroiditis in the SLE patients (n = 103; = 0.002 and = 0.026, respectively), and in all the included participants (n = 202, < 0.000 and = 0.007, respectively), and the CC haplotype was more frequent in the SLE patients with Hashimoto thyroiditis ( = 0.047) and in the overall participants with Hashimoto thyroiditis (n = 32, = 0.004). The , , and polymorphisms/haplotypes could be associated with SLE susceptibility and various clinical manifestations, and the CC haplotype could be associated with Hashimoto thyroiditis.
系统性红斑狼疮(SLE)的特征是促炎和抗炎介质之间的失衡。编码、和的基因中的单核苷酸多态性(SNPs)可能会影响它们的表达或功能,并破坏免疫稳态。我们旨在分析、和基因多态性/单倍型与患者易感性和 SLE 临床表现的关系。我们的研究包括 103 名 SLE 患者和 99 名健康对照。通过 TaqMan 分析确定了所选多态性(rs10892202、rs4252270、rs3135932、rs2228055、rs2229113 和 rs9610)、(rs999788、rs2834167 和 rs1058867)和(rs3795299 和 rs16829204)基因内的基因型。SLE 患者(76.8%比 61.2%;=0.017,OR=0.477,95%CI:0.258-0.879)比对照组更频繁携带 rs1058867 G 等位基因。与对照组相比,SLE 患者中 CAA 单倍型更为常见(42.7%比 30.7%;=0.027)。SLE 患者中 rs3795299 C 等位基因和 rs16829204 CC 基因型与桥本甲状腺炎有关(n=103;=0.002 和=0.026),在所有纳入的参与者(n=202;<0.000 和=0.007)中,桥本甲状腺炎患者(=0.047)和所有参与者(n=32;=0.004)中 CC 单倍型更为常见。、和基因多态性/单倍型可能与 SLE 易感性和各种临床表现有关,CC 单倍型可能与桥本甲状腺炎有关。