Gellekink Henkjan, den Heijer Martin, Heil Sandra G, Blom Henk J
Laboratory of Pediatrics and Neurology (424), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Semin Vasc Med. 2005 May;5(2):98-109. doi: 10.1055/s-2005-872396.
Hyperhomocysteinemia (Hhcy) is an established risk factor for various pathologies including arterial vascular disease and venous thrombosis, congenital malformations and other pregnancy complications, and dementia. Homocysteine remethylation, transsulfuration, and export to the blood/extracellular compartment determine homocysteine concentrations. Any disturbance in these routes may lead to Hhcy and potentially increase risk of disease. In this report, we aim to review all known polymorphisms involved in homocysteine and B-vitamin metabolism that have been assessed for their effect on tHcy. In the last section, we summarize the polymorphisms, for which the obtained data provides evidence for their involvement in Hhcy at the population level, and discuss how to continue our search for genetic determinants of tHcy.
高同型半胱氨酸血症（Hhcy）是多种疾病的既定风险因素，包括动脉血管疾病和静脉血栓形成、先天性畸形及其他妊娠并发症，以及痴呆症。同型半胱氨酸的再甲基化、转硫作用以及向血液/细胞外区室的转运决定了同型半胱氨酸的浓度。这些途径中的任何干扰都可能导致Hhcy，并可能增加疾病风险。在本报告中，我们旨在综述所有已知的参与同型半胱氨酸和B族维生素代谢的多态性，这些多态性已被评估其对总同型半胱氨酸（tHcy）的影响。在最后一部分，我们总结了那些所获数据为其在人群水平上参与Hhcy提供证据的多态性，并讨论如何继续寻找tHcy的遗传决定因素。
