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匈牙利的载脂蛋白多态性

Apolipoprotein polymorphism in Hungary.

作者信息

Császár A

机构信息

3rd Department of Medicine, Semmelweis University of Medicine, Budapest, Hungary.

出版信息

Acta Biomed Ateneo Parmense. 1995;66(3-4):169-74.

PMID:8578934
Abstract

The disorders of plasma apolipoprotein metabolism caused by a number of genetic and environmental factors are associated with atherosclerosis. Because of the distinct structural, epidemiological and genetic properties of apolipoproteins we have analyzed some potentially important phenotypical markers of apolipoproteins(a)/Lp(a)/,E (apo E) and A-IV (apo-A-IV). In our Hungarian study population (n = 202) the frequency of Lp(a) concentrations (mean 10.5 +/- 13.5 mg/dl) and phenotypes (the dominance of high molecular weight isoforms) show similar distribution that of other Caucasian populations. We have also found an inverse relationship between the concentrations and phenotypes of Lp(a). In accordance with earlier observation apo E polymorphism exerts a definitive effect on determinating variation of plasma cholesterol in our population. The average excesses of apo E alleles on serum cholesterol concentration were: E2 -0.34, E3 -0.01 and E4 +0.26 mmol/l. The apo E3 (0.807) allele was the most frequent followed by E4 (0.129) and E2 (0.064). In contrast, the apolipoprotein A-IV frequency distribution is significantly different from other Caucasian populations (p < 0.05). The frequency of apo A-IV alleles are f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. The association of apo A-IV phenotypes with HDL-cholesterol concentrations, which was previously described for two other European populations was only of borderline significance (p < 0.08). In conclusion, the results show the impact of phenotypic variation of apolipoproteins on the normal variation in the plasma lipid profile in Hungarian blood donors.

摘要

由多种遗传和环境因素引起的血浆载脂蛋白代谢紊乱与动脉粥样硬化有关。由于载脂蛋白具有独特的结构、流行病学和遗传学特性,我们分析了载脂蛋白(a)/Lp(a)/、E(载脂蛋白E)和A-IV(载脂蛋白A-IV)一些潜在的重要表型标志物。在我们的匈牙利研究人群(n = 202)中,Lp(a)浓度(平均10.5 +/- 13.5毫克/分升)和表型(高分子量异构体占优势)的频率分布与其他白种人群相似。我们还发现Lp(a)的浓度与表型之间呈负相关。与早期观察结果一致,载脂蛋白E多态性对我们人群中血浆胆固醇的测定变异有决定性影响。载脂蛋白E等位基因对血清胆固醇浓度的平均超额影响为:E2 -0.34、E3 -0.01和E4 +0.26毫摩尔/升。载脂蛋白E3(0.807)等位基因最常见,其次是E4(0.129)和E2(0.064)。相比之下,载脂蛋白A-IV的频率分布与其他白种人群有显著差异(p < 0.05)。载脂蛋白A-IV等位基因的频率为f(A-IV1) = 0.95、f(A-IV2) = 0.039和f(A-IV3) = 0.002。先前在其他两个欧洲人群中描述的载脂蛋白A-IV表型与高密度脂蛋白胆固醇浓度之间的关联仅具有临界显著性(p < 0.08)。总之,结果表明载脂蛋白的表型变异对匈牙利献血者血浆脂质谱的正常变异有影响。

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