Dursun Gül, Nursal Ayşe Feyda, Demir Helin Deniz, Karakuş Nevin, Demir Osman, Yiğit Serbülent
Department of Medical Biology, Gaziosmanpaşa University School of Medicine, Tokat, Turkey.
Department of Medical Genetics, Hitit University School of Medicine, Çorum, Turkey.
Eur J Rheumatol. 2018 Mar;5(1):27-31. doi: 10.5152/eurjrheum.2017.16102. Epub 2017 Oct 25.
Behçet's disease (BD), a chronic multisystem inflammatory disorder, is mainly characterized by relapsing periods of a wide range of clinical symptoms. Several cytokine genes may play important roles in the pathogenesis of BD. Therefore, interleukin-1 receptor antagonist (IL-1Ra) gene 86bp variable number tandem repeat (VNTR) variant was investigated in patients with BD in a Turkish population.
One hundred nine patients (60 females, 49 males; the mean age±standard deviation [SD] was 36.56±9.571 years) with BD and one hundred healthy individuals (54 females, 46 males; the mean age±SD was 36.64±2.294 years) were examined in the study. For genotyping, polymerase chain reaction-restriction fragment length polymorphism analysis was employed. Data were analyzed using Statistical Package for Social Sciences (SPSS) 22.0 (IBM Corp.; Armonk, NY, USA) (p<0.05).
The genotype distribution and allele frequencies of the IL-1Ra VNTR variant did not differ significantly between the patients and the controls (p>0.05). The frequency of the a1/a1, a1/a2 genotypes and a1, a2 alleles were the most common both in patients and healthy controls (p=0.37, p=0.26, and p=0.53, respectively). Also, no statistically significant difference was found between the IL-1Ra VNTR variant genotypes and clinical characteristics (p>0.05).
The results of this study do not support an association between the IL-1Ra VNTR variant and the risk of BD in a Turkish population. However, further studies of this variant with larger sample sizes and different ethnicities are required for confirmation.
白塞病（BD）是一种慢性多系统炎症性疾病，主要特征为一系列临床症状反复发作。多种细胞因子基因可能在BD发病机制中起重要作用。因此，在土耳其人群的BD患者中研究了白细胞介素-1受体拮抗剂（IL-1Ra）基因86bp可变数目串联重复序列（VNTR）变异。
本研究纳入109例BD患者（60例女性，49例男性；平均年龄±标准差[SD]为36.56±9.571岁）和100例健康个体（54例女性，46例男性；平均年龄±SD为36.64±2.294岁）。采用聚合酶链反应-限制性片段长度多态性分析进行基因分型。使用社会科学统计软件包（SPSS）22.0（IBM公司；美国纽约州阿蒙克）进行数据分析（p<0.05）。
患者与对照组之间IL-1Ra VNTR变异的基因型分布和等位基因频率无显著差异（p>0.05）。a1/a1、a1/a2基因型以及a1、a2等位基因的频率在患者和健康对照组中均最为常见（分别为p=0.37、p=0.26和p=0.53）。此外，IL-1Ra VNTR变异基因型与临床特征之间未发现统计学显著差异（p>0.05）。
本研究结果不支持土耳其人群中IL-1Ra VNTR变异与BD风险之间存在关联。然而，需要进一步开展更大样本量和不同种族的该变异研究以进行确认。
