Petković Tatjana Radjenović, Pejcić Tatjana, Videnović-Ivanov Jelica, Stoimenov Tatjana Jevtović, Janković Irena, Borovac Desa Nastasijević, Radojković Danijela
Clinic for Lung Diseases, Clinical Center, Nis, Serbia.
Srp Arh Celok Lek. 2013 Mar-Apr;141(3-4):169-72. doi: 10.2298/sarh1304169r.
Sarcoidosis is a multisystemic disease of unknown etiology. Genetic factors play a considerable role in the onset of the disease. Tumor necrosis factor alpha (TNF-a) is a proinflammatory cytokine which plays an important role in the pathogenesis of the disease and the formation of granuloma by regulating cellular proliferation and apoptosis.
The aim of this study was to investigate the role of TNF-alpha-308 G/A polymorphism in the development of sarcoidosis and to evaluate the association between the aforementioned type of polymorphism and the clinical course of the disease.
Seventy patients with sarcoidosis and 50 healthy volunteers were genotyped for the TNF-alpha-308G/A polymorphism. Polymorphism variants were examined by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) on the DNA isolated from blood leukocytes.
There were no significant differences in TNF-alpha-308A allele frequency distribution between sarcoidosis patients and the control group, but the TNF-alpha-308A allele was observed significantly more frequently in the sarcoidosis patients with Löfgren's syndrome when compared with non-Löfgren's patients.
We have found that the TNF-alpha-308A variant is associated with Löfgren's syndrome in Serbian patients with sarcoidosis.
结节病是一种病因不明的多系统疾病。遗传因素在该疾病的发病中起重要作用。肿瘤坏死因子α（TNF-α）是一种促炎细胞因子，通过调节细胞增殖和凋亡在疾病的发病机制及肉芽肿形成中发挥重要作用。
本研究旨在探讨TNF-α -308 G/A多态性在结节病发病中的作用，并评估上述多态性类型与疾病临床进程之间的关联。
对70例结节病患者和50名健康志愿者进行TNF-α -308G/A多态性基因分型。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对从血液白细胞中分离的DNA检测多态性变体。
结节病患者与对照组之间TNF-α -308A等位基因频率分布无显著差异，但与非 Löfgren 综合征患者相比，Löfgren 综合征结节病患者中TNF-α -308A等位基因的出现频率显著更高。
我们发现，在塞尔维亚结节病患者中，TNF-α -308A变体与Löfgren综合征相关。
