Kirkik Duygu, Hacimustafaoglu Fatih, Gündogdu Barış, Dogantekin Betül, Kariksiz Mesut, Kalkanli Tas Sevgi
Hamidiye Medicine Faculty, Department of Medical Biology, University of Health Sciences, Istanbul, Turkey.
Hamidiye Medicine Faculty, Department of Immunology, University of Health Sciences, Istanbul, Turkey.
Genet Test Mol Biomarkers. 2025 Feb;29(2):32-38. doi: 10.1089/gtmb.2024.0482. Epub 2025 Feb 7.
Ankylosing spondylitis (AS) is a chronic inflammatory disorder with a significant genetic predisposition. Genome-wide association studies (GWAS) have identified immune-related loci, including the G Protein-Coupled Receptor 35 (GPR35) gene, as potential contributors to AS pathogenesis. This study aimed to evaluate the association between the rs4676410 polymorphism in the GPR35 gene and both AS susceptibility and disease activity in a Turkish population. This case-control study included 200 participants (100 AS patients and 100 healthy controls). DNA was isolated from blood samples, and the rs4676410 polymorphism was analyzed using real-time polymerase chain reaction (PCR). Disease activity in AS patients was assessed using the Bath AS Functional Index (BASFI), Bath AS Disease Activity Index (BASDAI), and disease activity scores including C-reactive protein (ASDAS-CRP) scores. Statistical analyses were conducted using IBM SPSS 26. The rs4676410 polymorphism was significantly associated with AS susceptibility. The AA genotype and A allele were more prevalent in AS patients, indicating an increased risk of developing AS. Among disease activity measures, ASDAS-CRP scores were significantly higher in patients with the AA genotype ( = 0.043), while no significant differences were observed for BASFI and BASDAI scores across genotypes. The findings suggest that the rs4676410 polymorphism in the GPR35 gene is associated with AS susceptibility and may influence disease activity through elevated inflammatory responses. These results highlight the potential of the AA genotype and A allele as genetic markers for AS and underscore the importance of integrating genetic insights into personalized treatment approaches.
强直性脊柱炎(AS)是一种具有显著遗传易感性的慢性炎症性疾病。全基因组关联研究(GWAS)已确定包括G蛋白偶联受体35(GPR35)基因在内的免疫相关基因座是AS发病机制的潜在因素。本研究旨在评估土耳其人群中GPR35基因rs4676410多态性与AS易感性及疾病活动度之间的关联。这项病例对照研究纳入了200名参与者(100例AS患者和100名健康对照)。从血样中提取DNA,并使用实时聚合酶链反应(PCR)分析rs4676410多态性。使用巴斯强直性脊柱炎功能指数(BASFI)、巴斯强直性脊柱炎疾病活动指数(BASDAI)以及包括C反应蛋白在内的疾病活动评分(ASDAS-CRP)对AS患者的疾病活动度进行评估。使用IBM SPSS 26进行统计分析。rs4676410多态性与AS易感性显著相关。AA基因型和A等位基因在AS患者中更为常见,表明患AS的风险增加。在疾病活动度测量中,AA基因型患者的ASDAS-CRP评分显著更高(P = 0.043),而不同基因型的BASFI和BASDAI评分未观察到显著差异。研究结果表明,GPR35基因中的rs4676410多态性与AS易感性相关,并可能通过增强炎症反应影响疾病活动度。这些结果突出了AA基因型和A等位基因作为AS遗传标志物的潜力,并强调了将遗传见解纳入个性化治疗方法的重要性。