Seyhan Ekrem Cengiz, Cetinkaya Erdoğan, Günlüoğlu Zeki, Altin Sedat, Yüksel Vedat, Işsever Halim
Department of Chest Diseases, Yedikule Chest Diseases and Thoracic Surgery Education and Research Hospital, Istanbul, Turkey.
Tuberk Toraks. 2008;56(1):5-14.
Polymorphism at -857 locus of tumor necrosis factor (TNF)-alpha gene is considered to be a predisposition factor in sarcoidosis and held responsible for pathogenesis of the disease and polymorphism at +813 locus of vascular endothelial growth factor (VEGF) gene is thought to decrease predisposition to sarcoidosis. In our study, we examined and compared these polymorphisms in healthy Turkish control subjects and Turkish patients with sarcoidosis. We examined gene polymorphisms in 70 cases which were histopathologically diagnosed as sarcoidosis and 80 healthy subjects without any history of a chronic disease. 5 cc of blood were collected in tubes with EDTA from all of the cases. TNF-alpha-857 gene polymorphism and VEGF+813 gene polymorphism were determined using PCR + RFLP method after DNA isolation. TNF-alpha promoter polymorphism, at position -857, revealed no differences in genotype and allele frequency between patients and control subjects but more relapses were found in sarcoidosis patients who have this polymorphism. Considering the VEGF polymorphism at position +813, we observed a significant increase in the frequency of rarer T allele at this position in healthy subjects compared with sarcoidosis patients. VEGF gene polymorphism at +813 locus may diminish susceptibility to sarcoidosis. TNF-alpha-857 gene polymorphism influence severity of the disease.
肿瘤坏死因子(TNF)-α基因-857位点的多态性被认为是结节病的一个易感因素,与该疾病的发病机制有关;而血管内皮生长因子(VEGF)基因+813位点的多态性则被认为可降低患结节病的易感性。在我们的研究中,我们对健康的土耳其对照受试者和患有结节病的土耳其患者的这些多态性进行了检测和比较。我们检测了70例经组织病理学诊断为结节病的患者以及80名无任何慢性病病史的健康受试者的基因多态性。所有病例均采集5毫升用乙二胺四乙酸(EDTA)抗凝的血液。DNA分离后,采用聚合酶链反应(PCR)+限制性片段长度多态性(RFLP)方法测定TNF-α -857基因多态性和VEGF +813基因多态性。TNF-α启动子-857位点的多态性在患者和对照受试者之间的基因型和等位基因频率上没有差异,但具有这种多态性的结节病患者复发率更高。考虑到VEGF +813位点的多态性,我们观察到与结节病患者相比,健康受试者中该位点较罕见的T等位基因频率显著增加。VEGF基因+813位点的多态性可能会降低患结节病的易感性。TNF-α -857基因多态性影响疾病的严重程度。