Utermann G
Institute for Medical Biology and Genetics, University of Innsbruck, Austria.
Science. 1989 Nov 17;246(4932):904-10. doi: 10.1126/science.2530631.
Lipoprotein(a) [Lp(a)] is a macromolecular complex found in human plasma that combines structural elements from the lipoprotein and blood clotting systems and that is associated with premature coronary heart disease and stroke. It is assembled from low-density lipoprotein (LDL) and a large hydrophilic glycoprotein called apolipoprotein(a) [apo(a)], which is homologous to the protease zymogen plasminogen. Plasma Lp(a) concentrations vary 1000-fold between individuals and represent a continuous quantitative genetic trait with a skewed distribution in Caucasian populations. Variation in the hypervariable apo(a) gene on chromosome 6q2.6-q2.7 and interaction of apo(a) alleles with defective LDL-receptor genes explain a large fraction of the variability of plasma Lp(a) concentrations. Though of high theoretical and practical interest, many aspects of the metabolism, function, evolution, and regulation of plasma concentrations of Lp(a) are presently unknown, controversial, or mysterious.
脂蛋白(a)[Lp(a)]是一种存在于人体血浆中的大分子复合物，它结合了脂蛋白和血液凝固系统的结构成分，与早发性冠心病和中风有关。它由低密度脂蛋白(LDL)和一种名为载脂蛋白(a)[apo(a)]的大型亲水性糖蛋白组装而成，后者与蛋白酶原纤溶酶原同源。血浆Lp(a)浓度在个体之间相差1000倍，代表一种连续的数量遗传性状，在白种人群体中呈偏态分布。位于6号染色体q2.6-q2.7上的高变apo(a)基因的变异以及apo(a)等位基因与缺陷LDL受体基因的相互作用解释了血浆Lp(a)浓度变异的很大一部分。尽管具有很高的理论和实际意义，但目前Lp(a)的代谢、功能、进化和血浆浓度调节的许多方面尚不清楚、存在争议或神秘莫测。
