den Heijer Martin
Department of Endocrinology (531), University Medical Center Nijmegen, Nijmegen, The Netherlands.
Clin Chem Lab Med. 2003 Nov;41(11):1404-7. doi: 10.1515/CCLM.2003.215.
Classical homocystinuria is associated with arterial vascular diseases and venous thrombosis. In the last decade, many studies, including some prospective studies, have been published indicating that moderate hyperhomocysteinaemia is also a risk factor for venous thrombosis. The 677C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinaemia. Recent metaanalyses show an elevated risk of venous thrombosis for subjects with the TT-genotype. Based on the concept of 'Mendelian randomisation', this observation supports the hypothesis that hyperhomocysteinaemia is a causal risk factor for venous thrombosis. The results of one homocysteine-lowering trial regarding venous thrombosis are awaited at the end of 2003. In this paper the current evidence for hyperhomocysteinaemia as a risk factor for venous thrombosis is being discussed.
经典型同型胱氨酸尿症与动脉血管疾病和静脉血栓形成有关。在过去十年中，已经发表了许多研究，包括一些前瞻性研究，表明中度高同型半胱氨酸血症也是静脉血栓形成的一个危险因素。亚甲基四氢叶酸还原酶（MTHFR）基因中的677C>T突变是轻度高同型半胱氨酸血症的一个重要原因。最近的荟萃分析显示，TT基因型受试者发生静脉血栓形成的风险升高。基于“孟德尔随机化”的概念，这一观察结果支持了高同型半胱氨酸血症是静脉血栓形成的因果危险因素这一假设。一项关于静脉血栓形成的降低同型半胱氨酸试验的结果将于2003年底公布。本文正在讨论高同型半胱氨酸血症作为静脉血栓形成危险因素的现有证据。
