Kronenberg Florian
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Schöpfstr. 41, 6020, Innsbruck, Austria.
Clin Res Cardiol Suppl. 2019 Apr;14(Suppl 1):5-12. doi: 10.1007/s11789-019-00093-5.
In the middle of the 1990s the interest in Lp(a) vanished after a few badly performed studies almost erased Lp(a) from the map of biological targets. However, since roughly 10 years the interest has begun to grow again mainly for two reasons: first, genetic studies using easily accessible and high-throughput techniques for genotyping of single-nucleotide polymorphisms (SNPs) have allowed large studies in patients with cardiovascular disease and controls to be performed. This strengthened the earlier findings on a copy number variation in the LPA gene and its association with cardiovascular outcomes. Second, new therapies are on the horizon raising strong and justified hope that in a few years drugs will become available which tremendously lower Lp(a) concentrations. This review article should provide an introduction to the genetic determination of Lp(a) concentrations and considerations whether Lp(a) concentrations or genetic variants are important for the prediction of cardiovascular risk.
在20世纪90年代中期，在一些执行得很差的研究几乎将Lp(a)从生物靶点地图上抹去之后，对Lp(a)的兴趣消失了。然而，大约10年来，这种兴趣又开始增长，主要有两个原因：第一，使用易于获取的高通量技术对单核苷酸多态性（SNP）进行基因分型的遗传学研究，使得对心血管疾病患者和对照进行大规模研究成为可能。这强化了早期关于LPA基因拷贝数变异及其与心血管结局关联的发现。第二，新的疗法即将出现，引发了强烈且合理的希望，即在几年内将有药物可用于大幅降低Lp(a)浓度。这篇综述文章应介绍Lp(a)浓度的遗传学测定，并探讨Lp(a)浓度或基因变异对于预测心血管风险是否重要。
