Rainwater D L
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78228-0147, USA.
Atherosclerosis. 1995 Jun;115(2):165-71. doi: 10.1016/0021-9150(94)05507-f.
The reported general inverse relationship between apolipoprotein (a) (apo(a)) size and plasma lipoprotein (a) (Lp(a)) concentrations was further characterized using 927 samples taken from members of 42 Mexican-American families. When all samples were displayed in a scatter plot of apo(a) size versus natural log of Lp(a) concentration, the expected inverse relationship was observed (r2 = 0.24). However, the scatter plot revealed a multimodal pattern with at least two distinct modes of the inverse relationship between apo(a) size and Lp(a) concentration. Plots of 148 single-banded samples also showed the multimodal pattern, indicating that this pattern did not result from a difference between double- and single-banded samples. Also measured was the Lp(a) concentration associated with each of 508 apo(a) isoforms in samples from 254 double-banded phenotype individuals. These separated isoforms also showed the multimodal pattern. Using pedigree information, 29 different alleles were identified which were found in three or more family members. About 85% of variation in Lp(a) was explained by allele information, suggesting a genetic basis for the multimodal pattern. Thus, the data demonstrate at least two series of apo(a) alleles that have distinct relationships between apo(a) size and Lp(a) concentration.
利用从42个墨西哥裔美国家庭成员中采集的927份样本，对所报道的载脂蛋白(a) [apo(a)]大小与血浆脂蛋白(a) [Lp(a)]浓度之间的一般反比关系进行了进一步表征。当所有样本显示在apo(a)大小与Lp(a)浓度自然对数的散点图中时，观察到了预期的反比关系（r2 = 0.24）。然而，散点图显示出一种多峰模式，在apo(a)大小与Lp(a)浓度之间的反比关系中至少有两种不同的模式。148个单条带样本的散点图也显示出多峰模式，表明这种模式并非由双条带和单条带样本之间的差异导致。还对来自254个双条带表型个体样本中508种apo(a)异构体各自对应的Lp(a)浓度进行了测量。这些分离的异构体也显示出多峰模式。利用系谱信息，鉴定出了29个不同的等位基因，这些等位基因在三个或更多家庭成员中被发现。Lp(a)中约85%的变异可由等位基因信息解释，这表明多峰模式具有遗传基础。因此，数据表明至少有两组apo(a)等位基因，它们在apo(a)大小与Lp(a)浓度之间具有不同的关系。
