Karahan Zeynep C, Ozturk Aysenur, Akar Ece, Akar Nejat
Pediatric Molecular Genetics Department, Ankara University, School of Medicine, Ankara--Turkey.
J Nephrol. 2005 Sep-Oct;18(5):582-4.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by attacks of fever and inflammation. A sustained inflammatory reaction is observed in the disease course, and cytokine levels such as interleukin (IL)-1, IL-6 and tumor necrosis factor-alpha (TNF-alfa) are shown to increase during and between the attacks. In this study, we investigated the role of the functionally important IL-6 -174 G/C polymorphism in the clinical outcome of FMF and amyloidosis. One hundred and fifty-six FMF patients (80 with amyloidosis) and 90 healthy controls were studied. The genotype distributions and allele frequencies of the patients and the controls were found to be similar, and the differences between the groups were not statistically significant. The results show that IL-6 -174 G/C polymorphism is not associated with FMF and amyloidosis. The increase observed in cytokine levels during and between the attacks is more likely due to the inflammatory nature of the disease.
家族性地中海热（FMF）是一种以发热和炎症发作为特征的隐性疾病。在疾病过程中观察到持续的炎症反应，并且白细胞介素（IL）-1、IL-6和肿瘤坏死因子-α（TNF-α）等细胞因子水平在发作期间和发作之间会升高。在本研究中，我们调查了功能重要的IL-6 -174 G/C多态性在FMF和淀粉样变性临床结局中的作用。研究了156例FMF患者（80例有淀粉样变性）和90例健康对照。发现患者和对照的基因型分布及等位基因频率相似，组间差异无统计学意义。结果表明，IL-6 -174 G/C多态性与FMF和淀粉样变性无关。发作期间和发作之间观察到的细胞因子水平升高更可能是由于疾病的炎症性质。
