Schmidt Konrad, Noureen Asma, Kronenberg Florian, Utermann Gerd
Divisions of Human Genetics Medical University of Innsbruck, Innsbruck, Austria Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
J Lipid Res. 2016 Aug;57(8):1339-59. doi: 10.1194/jlr.R067314. Epub 2016 Apr 13.
Lipoprotein (a) [Lp(a)] has attracted the interest of researchers and physicians due to its intriguing properties, including an intragenic multiallelic copy number variation in the LPA gene and the strong association with coronary heart disease (CHD). This review summarizes present knowledge of the structure, function, and genetics of Lp(a) with emphasis on the molecular and population genetics of the Lp(a)/LPA trait, as well as aspects of genetic epidemiology. It highlights the role of genetics in establishing Lp(a) as a risk factor for CHD, but also discusses uncertainties, controversies, and lack of knowledge on several aspects of the genetic Lp(a) trait, not least its function.
脂蛋白(a)[Lp(a)]因其具有诸多引人关注的特性，包括LPA基因内的多等位基因拷贝数变异以及与冠心病(CHD)的强关联，而吸引了研究人员和医生的兴趣。本综述总结了目前关于Lp(a)的结构、功能和遗传学的知识，重点关注Lp(a)/LPA性状的分子遗传学和群体遗传学，以及遗传流行病学的各个方面。它强调了遗传学在确立Lp(a)作为冠心病危险因素方面的作用，但也讨论了关于遗传性Lp(a)性状若干方面的不确定性、争议和知识空白，尤其是其功能。
