D'Amico Mario, Sammarco Pietro, Pasta Linda
Department of Biopathology and Medical and Forensic Biotechnologies and Biomedical Department of Internal and Specialist Medicine, University of Palermo, Palermo, Italy.
Department of Oncology and Hematology, Cervello Hospital, Via Trabucco 180, 90146 Palermo, Italy.
Int J Vasc Med. 2013;2013:717480. doi: 10.1155/2013/717480. Epub 2013 Dec 18.
Thrombophilic genetic factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A were studied as risk factors in 235 Caucasian subjects: 85 patients with abdominal thrombosis (54 with portal vein thrombosis (PVT) and 31 with Budd-Chiari syndrome (BCS) without liver cirrhosis or hepatocellular carcinoma) and 150 blood bank donors. Seventy-five patients with PVT/BCS showed associated disease or particular clinical status (46 PVT/29 BCS): 37 myeloproliferative neoplasm (20 PVT/17 BCS), 12 abdominal surgery (10 PVT/2 BCS), 10 contraception or pregnancy (6 PVT/4 BCS), 7 abdominal acute disease (6 PVT/1 BCS), and 9 chronic disease (4 PVT/5 BCS); ten patients did not present any association (8 PVT/2 BCS). PAI-14G-4G, MTHFR677TT, and V Leiden 506Q were significantly frequent (OR 95% CI and χ (2) test with P value) in abdominal thrombosis; in these patients PAI-14G-4G and MTHFR677TT distributions deviated from that expected from a population in the Hardy-Weinberg equilibrium (PAI-1: χ (2) = 13.8, P < 0.001; MTHFR677: χ (2) = 7.1, P < 0.01), whereas the equilibrium was respected in healthy controls. V Leiden Q506 and Prothrombin 20210A were in the Hardy-Weinberg equilibrium both in patients with abdominal thrombosis and healthy controls. Our study shows an important role of PAI-14G-4G and MTHFR677TT in abdominal thrombosis without liver cirrhosis or hepatocellular carcinoma.
对235名白种人受试者研究了血栓形成倾向遗传因素PAI-1、MTHFRC677T、V Leiden 506Q和凝血酶原20210A作为危险因素：85例腹部血栓形成患者（54例门静脉血栓形成（PVT）和31例布加综合征（BCS），无肝硬化或肝细胞癌）和150名血库供血者。75例PVT/BCS患者伴有相关疾病或特殊临床状态（46例PVT/29例BCS）：37例骨髓增殖性肿瘤（20例PVT/17例BCS）、12例腹部手术（10例PVT/2例BCS）、10例避孕或妊娠（6例PVT/4例BCS）、7例腹部急性疾病（6例PVT/1例BCS）和9例慢性疾病（4例PVT/5例BCS）；10例患者无任何关联（8例PVT/2例BCS）。PAI-14G-4G、MTHFR677TT和V Leiden 506Q在腹部血栓形成中显著常见（比值比95%可信区间和χ²检验及P值）；在这些患者中，PAI-14G-4G和MTHFR677TT分布偏离哈迪-温伯格平衡人群预期分布（PAI-1：χ²=13.8，P<0.001；MTHFR677：χ²=7.1，P<0.01），而健康对照中保持平衡。V Leiden Q506和凝血酶原20210A在腹部血栓形成患者和健康对照中均处于哈迪-温伯格平衡。我们研究表明PAI-14G-4G和MTHFR677TT在无肝硬化或肝细胞癌的腹部血栓形成中起重要作用。
