Serarslan Gamze, Cura Sibel Elmacıoğlu, Kimyon Gezmiş, Üçgül Gökhan, Karadağ Mehmet
Department of Dermatology, Faculty of Medicine, Mustafa Kemal University, Hatay/Antakya, Turkey.
Health Sciences Institute, Kırıkkale University, Kırıkkale, Turkey.
Reumatologia. 2022;60(3):220-223. doi: 10.5114/reum.2022.117843. Epub 2022 Jul 13.
In this study, we aimed to determine the frequency of mutations in Behçet's disease (BD) and to investigate the relationship between clinical findings of the disease and the mutations.
A total of 66 participants (30 BD patients, 36 healthy subjects) were included in this study. The gene was analyzed by using DNA sequence analysis.
The distribution of mutations was not significantly different between the patients and the control group ( = 0.373). However, individuals with mutation had a risk of OR 4 times (95% CI: 1.1-14.5) higher than those without the mutation ( = 0.035). The rate of vascular involvement was statistically significantly higher in patients with the mutation than in patients without the mutation ( = 0.005).
mutation was associated with vascular involvement in patients with BD. This is also the first study to indicate that the R202Q mutation may have a role in BD. However large series from different regions are required to compare these results.
在本研究中，我们旨在确定白塞病（BD）中突变的频率，并研究该疾病的临床发现与突变之间的关系。
本研究共纳入66名参与者（30名BD患者，36名健康受试者）。通过DNA序列分析对基因进行分析。
患者与对照组之间突变的分布无显著差异（=0.373）。然而，有突变的个体发生风险比无突变个体高4倍（95%CI：1.1-14.5）（=0.035）。有突变的患者血管受累率在统计学上显著高于无突变的患者（=0.005）。
突变与BD患者的血管受累有关。这也是第一项表明R202Q突变可能在BD中起作用的研究。然而，需要来自不同地区的大量系列研究来比较这些结果。
