Salomon O, Rosenberg N, Zivelin A, Steinberg D M, Kornbrot N, Dardik R, Inbal A, Seligsohn U
Institute of Thrombosis and Hemostasis, Department of Hematology, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Hematol J. 2001;2(1):38-41. doi: 10.1038/sj.thj.6200078.
Hyperhomocysteinemia is a defined risk factor for venous thromboembolism (VTE). Several polymorphisms of genes encoding for enzymes acting in the remethylation pathway of homocysteine metabolism, ie, methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C, can cause increased homocysteine levels particularly in patients with deficiencies of folic acid, vitamin B6, or B12 and hence be potential risk factors for VTE. Indeed, homozygous MTHFR C677T was shown to be a mild risk factor for VTE by some, but not by all, investigators. In this study, we assessed the risk exerted by MS A2756G and MTHFR A1298C in a cohort of patients with idiopathic venous thromboembolism. Homozygosities for MS A2756G and MTHFR A1298C were not found to be statistically significant risk factors for VTE. In addition, no interactions were observed among MS A2756G, MTHFR A1298C and MTHFR C677T in conferring a risk of VTE.
高同型半胱氨酸血症是静脉血栓栓塞症（VTE）的一个明确危险因素。参与同型半胱氨酸代谢再甲基化途径的酶（即甲硫氨酸合成酶（MS）A2756G、亚甲基四氢叶酸还原酶（MTHFR）C677T和MTHFR A1298C）的几种基因多态性，可导致同型半胱氨酸水平升高，尤其是在叶酸、维生素B6或B12缺乏的患者中，因此可能是VTE的危险因素。实际上，一些研究者表明纯合子MTHFR C677T是VTE的一个轻度危险因素，但并非所有研究者都这么认为。在本研究中，我们评估了MS A2756G和MTHFR A1298C在一组特发性静脉血栓栓塞症患者中所带来的风险。未发现MS A2756G和MTHFR A1298C的纯合性是VTE的统计学显著危险因素。此外，未观察到MS A2756G、MTHFR A1298C和MTHFR C677T之间在赋予VTE风险方面存在相互作用。
