Schmitz Gerd, Langmann Thomas
Institute of Clinical Chemistry and Laboratory Medicine, University of Regensburg, Franz-Josef-Straub-Allee 11, 93042 Regensburg, Germany.
Vascul Pharmacol. 2006 Feb;44(2):75-89. doi: 10.1016/j.vph.2005.07.012. Epub 2005 Dec 5.
The prevention of cardiovascular disease is critically dependent on lipid-lowering therapy, including 3-hydroxymethyl-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins), cholesterol absorption inhibitors, bile acid resins, fibrates, and nicotinic acid. Although these drugs are generally well tolerated, severe adverse effects can occur in a minority of patients. Furthermore, a subset of patients does not respond to cholesterol-lowering therapy with a reduction in coronary heart disease progression. Significant progress has been made in the identification of common DNA sequence variations in genes influencing the pharmacokinetics and pharmacodynamics of statins and in disease-modifying genes relevant for coronary heart disease (CHD). Among the most promising candidate genes for pharmacogenomic analysis of statin therapy are HMG-CoA reductase as a direct target gene and other genes modulating lipid and lipoprotein homeostasis. Based on data from pharmacogenetic trials, a combined analysis of multiple genetic variants in several genes is more likely to give significant results than single gene studies in small cohorts. In the future, pharmacogenomic testing may allow risk stratification of patients to avoid serious side effects and enable clinicians to select lipid-lowering drugs with the highest efficacy resulting in the best response to therapy.
心血管疾病的预防严重依赖于降脂治疗,包括3-羟基-3-甲基戊二酰辅酶A(HMG-CoA)还原酶抑制剂(他汀类药物)、胆固醇吸收抑制剂、胆汁酸树脂、贝特类药物和烟酸。尽管这些药物通常耐受性良好,但少数患者可能会出现严重的不良反应。此外,一部分患者对降低胆固醇的治疗没有反应,冠心病进展并未得到缓解。在识别影响他汀类药物药代动力学和药效学的基因以及与冠心病(CHD)相关的疾病修饰基因中的常见DNA序列变异方面已经取得了重大进展。在他汀类药物治疗的药物基因组学分析中,最有前景的候选基因包括作为直接靶基因的HMG-CoA还原酶以及其他调节脂质和脂蛋白稳态的基因。根据药物遗传学试验的数据,与小队列中的单基因研究相比,对几个基因中的多个遗传变异进行联合分析更有可能得出显著结果。未来,药物基因组学检测可能会对患者进行风险分层,以避免严重的副作用,并使临床医生能够选择疗效最高的降脂药物,从而获得最佳的治疗反应。