Genetic Susceptibility and Disease Activity in Ankylosing Spondylitis: The Role of G Protein-Coupled Receptor 35rs4676410 Polymorphism in a Turkish Population.

IF 1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2025-02-01 Epub Date: 2025-02-07 DOI:10.1089/gtmb.2024.0482
Duygu Kirkik, Fatih Hacimustafaoglu, Barış Gündogdu, Betül Dogantekin, Mesut Kariksiz, Sevgi Kalkanli Tas
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Abstract

Background: 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. Methods: 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. Results: 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 (p = 0.043), while no significant differences were observed for BASFI and BASDAI scores across genotypes. Conclusion: 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.

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强直性脊柱炎的遗传易感性和疾病活动性:土耳其人群中G蛋白偶联受体35rs4676410多态性的作用
背景:强直性脊柱炎(AS)是一种具有显著遗传易感性的慢性炎性疾病。全基因组关联研究(GWAS)已经确定免疫相关基因座,包括G蛋白偶联受体35 (GPR35)基因,是as发病的潜在因素。本研究旨在评估土耳其人群中GPR35基因rs4676410多态性与AS易感性和疾病活动性之间的关系。方法:本研究纳入200例受试者(100例AS患者和100例健康对照)。从血样中分离DNA,采用实时聚合酶链反应(real-time polymerase chain reaction, PCR)分析rs4676410多态性。采用巴斯AS功能指数(BASFI)、巴斯AS疾病活动性指数(BASDAI)和疾病活动性评分(包括c反应蛋白(ASDAS-CRP)评分)评估AS患者的疾病活动性。采用IBM SPSS 26进行统计学分析。结果: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患者中更为普遍,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评分显著较高(p = 0.043),而BASFI和BASDAI评分在不同基因型之间无显著差异。结论:研究结果提示GPR35基因rs4676410多态性与AS易感性相关,并可能通过提高炎症反应影响疾病活动性。这些结果突出了AA基因型和A等位基因作为as遗传标记的潜力,并强调了将遗传见解整合到个性化治疗方法中的重要性。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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