Lahmar Rajaa, Zemni Ramzi, Gereisha Ahmed Adel, Chabchoub Elyes, Mzabi Anis, Ghannouchi Neirouz, Slama Foued Ben Hadj
Faculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia.
Department of Internal Medicine, University Hospital Sahloul, University of Sousse, Sousse, Tunisia.
Clin Rheumatol. 2025 Aug 14. doi: 10.1007/s10067-025-07628-0.
Signal transducer and activator of transcription-3 (STAT3) is a nuclear transcription factor that seems to be involved in the pathogenesis of several autoimmune diseases. Herein, we investigated the association between polymorphisms in the 3'UTR of STAT3 with Behçet's disease (BD) susceptibility in a Tunisian cohort.
This study included 110 patients with BD and 116 age-unmatched healthy controls. STAT3 rs1053004 and rs1053005 polymorphisms were genotyped by mutagenically separated polymerase chain reaction with newly designed primers.
The rs1053005 CC genotype and minor C allele were more frequent in patients with BD than in healthy controls (19.1% vs. 7.8% and 37% vs. 26%, respectively). The CC genotype was found to be associated with BD in the co-dominant and recessive models (OR = 2.66, 95%CI = 0.97-7.29, p = 0.05 and OR = 2.67, 95%CI = 1.01-7.02, p = 0.04, respectively). STAT3 rs1053004 was found not to be in the Hardy-Weinberg equilibrium. The G allele was more frequent in BD patients than in healthy controls (36% versus 21%). Moreover, STAT3 rs1053005 minor C allele was significantly associated with severe ocular lesions in BD (OR = 2.76, 95%CI = 1.54-4.94, P = 0.0002). The rs1053004-rs1053005 A-C haplotype was significantly associated with severe ocular lesions (OR = 2.68, 95%CI = 1.24-5.82, P = 0.042).
STAT3 rs1053004 and rs1053005 polymorphisms and G-C haplotype are associated with BD risk in our study cohort. The A-C haplotype was significantly associated with severe ocular lesions in BD. Studies in large sample sizes are required to verify and extend these findings. Key points • STAT3 rs1053005 CC genotype is associated with BD susceptibility. • STAT3 rs1053005 C allele is associated with severe ocular manifestations in BD. • The AC haplotype is associated with severe ocular manifestations in BD.
信号转导与转录激活因子3（STAT3）是一种核转录因子，似乎参与了多种自身免疫性疾病的发病机制。在此，我们在一个突尼斯队列中研究了STAT3 3'非翻译区（3'UTR）多态性与白塞病（BD）易感性之间的关联。
本研究纳入了110例BD患者和116例年龄不匹配的健康对照。通过使用新设计的引物进行诱变分离聚合酶链反应，对STAT3 rs1053004和rs1053005多态性进行基因分型。
BD患者中rs1053005 CC基因型和次要C等位基因的频率高于健康对照（分别为19.1%对7.8%和37%对26%）。在共显性和隐性模型中发现CC基因型与BD相关（OR = 2.66，95%CI = 0.97 - 7.29，p = 0.05；OR = 2.67，95%CI = 1.01 - 7.02，p = 0.04）。发现STAT3 rs1053004不符合哈迪 - 温伯格平衡。BD患者中G等位基因的频率高于健康对照（36%对21%）。此外，STAT3 rs1053005次要C等位基因与BD中的严重眼部病变显著相关（OR = 2.76，95%CI = 1.54 - 4.94，P = 0.0002）。rs1053004 - rs1053005 A - C单倍型与严重眼部病变显著相关（OR = 2.68，95%CI = 1.24 - 5.82，P = 0.042）。
在我们的研究队列中，STAT3 rs1053004和rs1053005多态性以及G - C单倍型与BD风险相关。A - C单倍型与BD中的严重眼部病变显著相关。需要大样本量的研究来验证和扩展这些发现。要点：• STAT3 rs1053005 CC基因型与BD易感性相关。• STAT3 rs1053005 C等位基因与BD中的严重眼部表现相关。• AC单倍型与BD中的严重眼部表现相关。
