Zidane Majida, de Visser Marieke C H, ten Wolde Marije, Vos Hans L, de Monyé Wouter, Bertina Rogier M, Huisman Menno V
Department of General Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Thromb Haemost. 2003 Sep;90(3):439-45. doi: 10.1160/TH03-01-0035.
Deep vein thrombosis (DVT) and pulmonary embolism (PE) are considered to be two forms of the same disease, however it is not fully understood what determines their clinical presentation. Proteins encoded by the FXIIIA and TAFI genes are involved in stabilizing the fibrin clot and in making it more lysis resistant. The FXIIIA 34Leu and TAFI -438A alleles might protect against DVT. Information on such an association with PE is either contradictory or missing. We hypothesized that both polymorphisms might influence the formation and fate of emboli and accordingly the risk of PE. We determined the frequencies of both polymorphisms in patients with objectively demonstrated PE. The frequency of FXIIIA Leu34Leu in PE patients and non-PE patients was 4.5% and 8.8%, [OR 0.5 (95% CI: 0.1 to 1.9)], respectively. For -438 A/A TAFI genotype the frequency was 1.5% and 8.1% [OR 0.1 (95% CI: 0.02 to 1.1)], respectively.
深静脉血栓形成（DVT）和肺栓塞（PE）被认为是同一种疾病的两种形式，然而，目前尚未完全了解是什么决定了它们的临床表现。FXIIIA和TAFI基因编码的蛋白质参与稳定纤维蛋白凝块并使其更具抗溶解能力。FXIIIA 34Leu和TAFI -438A等位基因可能对DVT具有保护作用。关于这种与PE关联的信息要么相互矛盾，要么缺失。我们假设这两种多态性可能会影响栓子的形成和转归，从而影响PE的风险。我们确定了客观证实患有PE的患者中这两种多态性的频率。PE患者和非PE患者中FXIIIA Leu34Leu的频率分别为4.5%和8.8%，[比值比（OR）为0.5（95%可信区间：0.1至1.9）]。对于-438 A/A TAFI基因型，频率分别为1.5%和8.1% [OR 0.1（95%可信区间：0.02至1.1）]。
