Familial Mediterranean fever is a hereditary autoinflammatory syndrome. The typical treatment for the disease is colchicine. However, a subset of patients are not responsive to colchicine. In this study, polymorphisms in the colchicine-binding site of the TUBB1 gene, which encodes a tubulin isoform specific to leukocytes, were investigated in patients with colchicine-resistant disease. FMF patients who were followed in the Department of Pediatric Rheumatology at Hacettepe University were included in this study. Colchicine resistance was defined as ongoing disease activity (≥ 1 attack/month over 3 months or persistently elevated CRP) while taking the maximum tolerated dose of colchicine. A total of 62 Turkish FMF patients (42 colchicine-responsive and 20 colchicine-resistant) and a control group of healthy children were included in the study. DNA was extracted for analysis of TUBB1, and the colchicine binding site was sequenced. We did not observe A248T (rs148237574) or M257V (rs759579888), two variations that were previously associated with colchicine resistance in an in silico analysis. We did detect T274M (rs35565630), R306H (rs772479017), and R307H (rs6070697) variants in the FMF patients, but there was no statistically significant difference between the colchicine-responsive and colchicine-resistant groups. This is the first study to evaluate TUBB1 gene polymorphisms in the colchicine binding site in patients with FMF. Our data do not support the hypothesis that these polymorphisms are a possible cause of colchicine resistance in FMF patients.

家族性地中海热是一种遗传性自身炎症综合征。该疾病的典型治疗方法是秋水仙碱。但是，一部分患者对秋水仙碱没有反应。在这项研究中，TUBB1秋水仙碱结合位点的多态性在患有秋水仙碱抗性疾病的患者中研究了编码对白细胞特异的微管蛋白同工型的基因。Hacettepe大学小儿风湿病科随访的FMF患者也包括在本研究中。秋水仙碱抗性定义为持续服用疾病药物（3个月内≥1次发作/月或CRP持续升高），同时服用最大耐受量的秋水仙碱。这项研究包括了总共62例土耳其FMF患者（42例秋水仙碱反应性和20例秋水仙碱耐药性）和健康儿童对照组。提取DNA进行TUBB1分析，并对秋水仙碱结合位点进行测序。我们没有观察到A248T（rs148237574）或M257V（rs759579888），这是计算机分析中先前与秋水仙碱抗性相关的两个变异。我们确实在FMF患者中检测到T274M（rs35565630），R306H（rs772479017）和R307H（rs6070697）变体，但秋水仙碱应答组和秋水仙碱耐药组之间无统计学差异。这是第一项评估FMF患者秋水仙碱结合位点TUBB1基因多态性的研究。我们的数据不支持以下假设：这些多态性可能是FMF患者秋水仙碱耐药的原因。