Balta Gunay, Altay Cigdem, Gurgey Aytemiz
Hacettepe University, Faculty of Medicine, Department of Pediatrics, Institute of Child Health and Pediatric Hematology Unit, Ankara, Turkey.
Am J Hematol. 2002 Oct;71(2):89-93. doi: 10.1002/ajh.10192.
Although the common 4G/5G polymorphism in the promoter of the PAI-1 gene was suggested to be a risk factor for some of the thrombotic disorders, its significance in the development of thrombosis is still controversial. This study presents the data on a total of 357 patients with different types of thrombosis and 281 unrelated healthy controls. It was found that the 4G/4G genotype is associated with a higher risk of thrombosis (OR, 1.7; 95% CI, 1.1-2.5). Patients were divided into five distinct groups according to the site of thrombosis. Both 4G/4G and 4G/5G genotypes were associated with a higher risk of thrombosis development in a group of 69 patients with internal organ thrombosis (OR, 6.35; 95% CI, 2.5-16.1 and OR, 4.85; 95% CI, 2.0-12.1, respectively). Interestingly, this association was even stronger in a subgroup of 33 patients with portal vein thrombosis (PVT) and 4G/4G and 4G/5G genotypes conferred more than 10- and 6-fold increases in the risk of developing PVT (95% CI: 2.3-47.1 and 1.4-28.8), respectively. No statistically significant association was found between 4G/4G genotype and the groups of deep vein thrombosis (126 patients), cerebral thrombosis (80 patients), retinal thrombosis (72 patients), and purpura fulminans (16 patients). Factor V Leiden or prothrombin G20210A mutations did not emerge as additional risk factors for thrombosis in any of the groups studied. To conclude, this study suggests that there may be an association between 4G/4G and 4G/5G genotypes and the thrombosis in vessels of internal organs especially in the portal veins.
尽管PAI - 1基因启动子中常见的4G/5G多态性被认为是某些血栓形成性疾病的危险因素，但其在血栓形成发展中的意义仍存在争议。本研究提供了总共357例不同类型血栓形成患者和281例无亲缘关系健康对照的数据。研究发现，4G/4G基因型与更高的血栓形成风险相关（比值比，1.7；95%置信区间，1.1 - 2.5）。根据血栓形成部位，患者被分为五个不同组。在一组69例内脏器官血栓形成患者中，4G/4G和4G/5G基因型均与更高的血栓形成风险相关（比值比分别为6.35；95%置信区间，2.5 - 16.1和比值比4.85；95%置信区间，2.0 - 12.1）。有趣的是，在33例门静脉血栓形成（PVT）患者亚组中，这种关联更强，4G/4G和4G/5G基因型使发生PVT的风险分别增加了10倍以上和6倍以上（95%置信区间：2.3 - 47.1和1.4 - 28.8）。在深静脉血栓形成组（126例患者）、脑血栓形成组（80例患者）、视网膜血栓形成组（72例患者）和暴发性紫癜组（16例患者）中，未发现4G/4G基因型与这些组之间存在统计学上的显著关联。在任何研究组中，因子V莱顿突变或凝血酶原G20210A突变均未作为血栓形成的额外危险因素出现。总之这项研究表明，4G/4G和4G/5G基因型与内脏器官血管尤其是门静脉的血栓形成之间可能存在关联。
