Cosan Fulya, Oku Basar, Gedar Totuk Ozgun M, Abaci Neslihan, Ustek Duran, Diz Kucukkaya Reyhan, Gul Ahmet
Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Bahcesehir University, Istanbul, Turkey.
Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Int J Rheum Dis. 2018 Dec;21(12):2175-2179. doi: 10.1111/1756-185X.13151. Epub 2017 Aug 14.
Behçet's disease (BD) has been recognized as an unclassified type of vasculitis with an accompanying tendency to thrombosis. No disease-specific pathology has been demonstrated so far to explain the prothrombotic state, and this predisposition is considered to be associated with endothelial activation/dysfunction. P-selectin glycoprotein ligand-1 (PSGL-1) variable number of tandem repeat (VNTR) polymorphism has an impact on the protein length, and heterozygosity affect of the PSGL-1 to P-selectin interaction, which has been found to be associated with an increased risk of thrombosis in patients with antiphospholipid syndrome. We aimed to analyze the association of PSGL-1 gene polymorphism, in a group of BD patients with and without thrombosis.
The study group consisted of 136 BD patients (112 male, 24 female) with thrombosis, 120 BD patients without thrombosis (54 male, 66 female) during at least 5 years disease course, and 190 healthy controls (103 male, 87 female) All patients fulfilled the International Study Group criteria for classification of BD. Genotyping for the PSGL-1 gene exon 2 VNTR polymorphism was carried out with the amplification of genomic DNA and running of the polymerase chain reaction product on agarose gel electrophoresis.
The frequency of heterozygous genotypes (AB+AC+BC) was greater in BD patients with thrombosis compared to BD patients without thrombosis (33.1% vs. 20.8%, P = 0.028, odds ratio = 1.85). However, the increased frequency of heterozygous genotypes in BD patients with thrombosis did not reach a statistically significant level compared to healthy controls (33.1% vs. 32.6%).
PSGL-1 VNTR polymorphism may have limited contribution to the thrombotic tendency in patients with BD.
白塞病（BD）被认为是一种未分类的血管炎类型，伴有血栓形成倾向。迄今为止，尚未发现特定疾病的病理学表现来解释这种促血栓状态，这种易感性被认为与内皮激活/功能障碍有关。P-选择素糖蛋白配体-1（PSGL-1）可变串联重复序列（VNTR）多态性会影响蛋白质长度，且杂合性会影响PSGL-1与P-选择素的相互作用，已发现这与抗磷脂综合征患者血栓形成风险增加有关。我们旨在分析一组有或无血栓形成的BD患者中PSGL-1基因多态性的相关性。
研究组包括136例有血栓形成的BD患者（男性112例，女性24例）、120例在至少5年病程中无血栓形成的BD患者（男性54例，女性66例）以及190例健康对照者（男性103例，女性87例）。所有患者均符合国际研究组的BD分类标准。通过扩增基因组DNA并在琼脂糖凝胶电泳上运行聚合酶链反应产物，对PSGL-1基因外显子2 VNTR多态性进行基因分型。
与无血栓形成的BD患者相比，有血栓形成的BD患者杂合基因型（AB + AC + BC）的频率更高（33.1%对20.8%，P = 0.028，比值比 = 1.85）。然而，与健康对照者相比，有血栓形成的BD患者杂合基因型频率的增加未达到统计学显著水平（33.1%对32.6%）。
PSGL-1 VNTR多态性对BD患者的血栓形成倾向可能贡献有限。
