Sandholzer C, Hallman D M, Saha N, Sigurdsson G, Lackner C, Császár A, Boerwinkle E, Utermann G
Institut für Medizinische Biologie und Humangenetik der Universität, Innsbruck, Austria.
Hum Genet. 1991 Apr;86(6):607-14. doi: 10.1007/BF00201550.
Apolipoprotein(a) [apo(a)] exhibits a genetic size polymorphism explaining about 40% of the variability in lipoprotein(a) [Lp(a)] concentration in Tyroleans. Lp(a) concentrations and apo(a) phenotypes were determined in 7 ethnic groups (Tyrolean, Icelandic, Hungarian, Malay, Chinese, Indian, Black Sudanese) and the effects of the apo(a) size polymorphism on Lp(a) levels were estimated in each group. Average Lp(a) concentrations were highly significantly different among these populations, with the Chinese (7.0 mg/dl) having the lowest and the Sudanese (46 mg/dl) the highest levels. Apo(a) phenotype and derived apo(a) allele frequencies were also significantly different among the populations. Apo(a) isoform effects on Lp(a) levels were not significantly different among populations. Lp(a) levels were however roughly twice as high in the same phenotypes in the Indians, and several times as high in the Sudanese, compared with Caucasians. The size variation of apo(a) explains from 0.77 (Malays) to only 0.19 (Sudanese) of the total variability in Lp(a) levels. Together these data show (I) that there is considerable heterogeneity of the Lp(a) polymorphism among populations, (II) that differences in apo(a) allele frequencies alone do not explain the differences in Lp(a) levels among populations and (III) that in some populations, e.g. Sudanese Blacks, Lp(a) levels are mainly determined by factors that are different from the apo(a) size polymorphism.
载脂蛋白(a)[apo(a)]表现出一种基因大小多态性,这解释了蒂罗尔人群中脂蛋白(a)[Lp(a)]浓度约40%的变异性。在7个种族群体(蒂罗尔人、冰岛人、匈牙利人、马来人、中国人、印度人、苏丹黑人)中测定了Lp(a)浓度和apo(a)表型,并估计了每组中apo(a)大小多态性对Lp(a)水平的影响。这些人群的平均Lp(a)浓度差异极显著,中国人(7.0mg/dl)的Lp(a)浓度最低,苏丹人(46mg/dl)的Lp(a)浓度最高。人群之间的apo(a)表型和推导的apo(a)等位基因频率也有显著差异。apo(a)异构体对Lp(a)水平的影响在不同人群中无显著差异。然而,与高加索人相比,印度人相同表型的Lp(a)水平大约是其两倍,苏丹人的Lp(a)水平则是其几倍。apo(a)的大小变异解释了Lp(a)水平总变异性的0.77(马来人)至仅0.19(苏丹人)。这些数据共同表明:(I)人群中Lp(a)多态性存在相当大的异质性;(II)仅apo(a)等位基因频率差异并不能解释人群间Lp(a)水平的差异;(III)在某些人群中,如苏丹黑人,Lp(a)水平主要由与apo(a)大小多态性不同的因素决定。