Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
Clin Chem Lab Med. 2010 Dec;48 Suppl 1:S119-27. doi: 10.1515/CCLM.2010.370. Epub 2010 Nov 10.
Advances in the field of human genetics has made it possible to develop prevention strategies for rare genetic disorders and to tailor pharmacotherapeutic approaches to anticoagulation and certain cancers. However, it is still not clear how genetic variations influence the risk and outcome of common diseases. Data from genome-wide association studies is just beginning to answer these questions. In contrast, pharmacogenetic knowledge is frequently not yet translated into clinical practice, even though in some cases, particularly regarding drugs used in treatment of thrombotic diseases (e.g., coumarines, platelet aggregation inhibitors), it is already known that testing for genetic variants prior to pharmacotherapy may help to prevent severe adverse drug reactions or avoid therapeutic failure. In this review, we address the potential impact that genetic alterations in the genes for vitamin K epoxide reductase and some cytochrome P450 variants may have on therapeutic strategies in anticoagulation.
人类遗传学领域的进展使得开发针对罕见遗传疾病的预防策略以及针对抗凝和某些癌症的药物治疗方法成为可能。然而，遗传变异如何影响常见疾病的风险和结局尚不清楚。全基因组关联研究的数据才刚刚开始回答这些问题。相比之下，即使在某些情况下，例如在治疗血栓性疾病（如香豆素、血小板聚集抑制剂）时使用的药物，药物遗传学知识通常尚未转化为临床实践，但已经知道在药物治疗前检测遗传变异可以帮助预防严重的药物不良反应或避免治疗失败，但这方面的知识还没有得到充分利用。在这篇综述中，我们探讨了维生素 K 环氧化物还原酶和某些细胞色素 P450 变体基因中的遗传改变对抗凝治疗策略可能产生的影响。
