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健康人群中载脂蛋白B基因多态性及其与高脂血症的关联

[Polymorphisms of the Apo B gene in a healthy population and its association with hyperlipidemia].

作者信息

Balanya J, Marsal S, La Ville A, Vilella E, Turner P R, Masana L

机构信息

Unitat de Recerca de Lípids, Hospital de Sant Joan, Facultat de Medicina, Universitat de Barcelona, Reus, Tarragona.

出版信息

Med Clin (Barc). 1990 Mar 31;94(12):448-50.

PMID:1973208
Abstract

The apoprotein B gene restriction fragment length polymorphism are studied using the endonuclease XbaI, and the pAB3.5C probe was studied in 128 healthy males aged 20-62 years (39.2 +/- 7.6). The genotypic prevalence was X1X1 26.6%; X1X2 47.7% and X2X2 25.7%. The allelic frequency was 50.3% X1 and 49.7 for X2. No differences in prevalence were observed related to age or body mass index. The genotype X2X2 was statistically associated with a 10% increase in total plasma cholesterol, LDL cholesterol and LDL Apo B levels (p less than 0.05). Up to 6% of the total plasma cholesterol levels were dependent on X2X2 genotype as shown by multivariate regression analysis. The X2X2 genotype may be a candidate marker in assessing increased risk for coronary heart disease.

摘要

利用内切酶XbaI研究载脂蛋白B基因限制性片段长度多态性,并使用pAB3.5C探针,对128名年龄在20 - 62岁(平均39.2±7.6岁)的健康男性进行研究。基因型患病率为:X1X1 26.6%;X1X2 47.7%;X2X2 25.7%。等位基因频率为:X1 50.3%,X2 49.7%。未观察到患病率与年龄或体重指数有关的差异。基因型X2X2与总血浆胆固醇、低密度脂蛋白胆固醇和低密度脂蛋白载脂蛋白B水平升高10%具有统计学相关性(p<0.05)。多变量回归分析显示,高达6%的总血浆胆固醇水平取决于X2X2基因型。X2X2基因型可能是评估冠心病风险增加的候选标志物。

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