Medical Faculty, Department of Medical Genetics, Erciyes University, Melikgazi, Kayseri, 38039, Kayseri, Turkey.
Mod Rheumatol. 2013 Jan;23(1):140-5. doi: 10.1007/s10165-012-0687-9. Epub 2012 Jun 27.
Familial Mediterranean fever (FMF) is one of the most serious inherited inflammatory disorders among Jewish, Armenian, Turkish and Arab populations. The imbalance between pro- and anti-inflammatory cytokines may play a role in its etiology. We have investigated whether tumor necrosis factor-alpha (TNF-α) and plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms are associated with FMF and evaluated the relationship between these polymorphisms and genotypic manifestation of FMF.
We investigated single nucleotide polymorphisms of the TNF-α promoter at positions -308 G/A and the PAI-1 4G/5G gene polymorphism in peripheral blood leukocytes collected from 177 individuals with FMF with different genotype combinations. All of the polymorphisms of TNF-α and PAI-1 were detected by PCR and restriction fragment length polymorphism analysis.
There were no association between the TNF-α/308 genotypes and mutations in FMF. In contrast, the PAI-1 4G/5G gene polymorphism may have a significant effect in FMF disease.
Screening with PAI-1 gene polymorphism tests may be beneficial for tracing future FMF patients. However, further investigations are needed to reach a conclusion on the association between PAI-1 polymorphisms and FMF.
家族性地中海热（FMF）是犹太、亚美尼亚、土耳其和阿拉伯人群中最严重的遗传性炎症性疾病之一。促炎细胞因子和抗炎细胞因子之间的失衡可能在其发病机制中发挥作用。我们研究了肿瘤坏死因子-α（TNF-α）和纤溶酶原激活物抑制剂 1（PAI-1）基因多态性是否与 FMF 相关，并评估了这些多态性与 FMF 基因型表现之间的关系。
我们检测了来自 177 名具有不同基因型组合的 FMF 患者外周血白细胞中的 TNF-α 启动子 -308 G/A 位置的单核苷酸多态性和 PAI-1 4G/5G 基因多态性。所有 TNF-α 和 PAI-1 的多态性均通过 PCR 和限制性片段长度多态性分析进行检测。
TNF-α/308 基因型与 FMF 突变之间无相关性。相比之下，PAI-1 4G/5G 基因多态性可能对 FMF 疾病有显著影响。
用 PAI-1 基因多态性检测进行筛查可能有助于追踪未来的 FMF 患者。然而，需要进一步的研究来得出关于 PAI-1 多态性与 FMF 之间的关联的结论。
