Department of Clinical & Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Rheumatology and Rehabilitation, Faculty of Medicine, Cairo University, Cairo, Egypt.
Immunol Invest. 2022 May;51(4):899-908. doi: 10.1080/08820139.2021.1883647. Epub 2021 Feb 19.
Behçet's disease (BD) is a chronic autoimmune inflammatory disease. Clinical studies revealed that both microRNAs and urotensin II (UTS2) play a significant role in the development of autoinflammatory diseases.
The study aimed to determine the association between rs2910164 and rs228648 genetic variants and BD susceptibility. In addition, the relationship between these gene variants and clinical and laboratory outcomes among Egyptian patients was investigated.
The distributions of rs2910164 and rs228648 (p.Thr21Met) variants were analyzed in 94 patients with BD and 115 healthy control subjects using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Taqman Real-time PCR techniques.
Frequencies of the G/G genotype and G allele of rs2910164 variant were significantly higher in patients with BD compared with normal controls ( = .042, OR = 2.31; = .022, OR = 1.58, respectively). The frequencies of the Thr/Thr genotype and the Thr allele of rs228648 variant were significantly higher in subjects with BD compared with normal controls ( = .028, OR = 3.35; = .032, OR = 1.60, respectively).
Our results suggest that rs2910164 and rs228648 variants have significant roles in both the development and clinical modulation of BD in Egyptian patients.
贝赫切特病（BD）是一种慢性自身免疫性炎症性疾病。临床研究表明，microRNAs 和尾加压素 II（UTS2）在自身炎症性疾病的发展中都起着重要作用。
本研究旨在确定 rs2910164 和 rs228648 遗传变异与 BD 易感性之间的关联。此外，还研究了这些基因变异与埃及患者的临床和实验室结果之间的关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和 Taqman 实时 PCR 技术分析 94 例 BD 患者和 115 例健康对照者 rs2910164 和 rs228648（p.Thr21Met）变异的分布。
BD 患者 rs2910164 基因型和 G 等位基因的 G/G 频率明显高于正常对照组（ = 0.042，OR = 2.31； = 0.022，OR = 1.58）。rs228648 变异的 Thr/Thr 基因型和 Thr 等位基因的频率在 BD 患者中明显高于正常对照组（ = 0.028，OR = 3.35； = 0.032，OR = 1.60）。
我们的研究结果表明，rs2910164 和 rs228648 变异在埃及患者 BD 的发病机制和临床调节中均具有重要作用。
