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严重主动脉瓣狭窄中载脂蛋白AI、B和E基因多态性

Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis.

作者信息

Avakian S D, Annicchino-Bizzacchi J M, Grinberg M, Ramires J A, Mansura A P

机构信息

Heart Institute InCor, University of São Paulo Medical School, São Paulo, Brazil.

出版信息

Clin Genet. 2001 Nov;60(5):381-4. doi: 10.1034/j.1399-0004.2001.600511.x.

Abstract

Hypercholesterolemia has been related to aortic valve stenosis (AS). Polymorphisms of apolipoproteins (apo) AI, B, and E are associated with variable levels of plasma lipids, but the association between these polymorphisms and AS is unknown. In a case-control study of groups matched by age, sex, comparable body mass index, hypertension, triglycerides, high-density lipoprotein (HDL) cholesterol, and low-density lipoprotein (LDL) cholesterol, we analyzed the distribution of apo AI A/G mutation, apo B signal peptide insertion/deletion, apo B XbaI restriction fragment length. and apo E polymorphisms in 62 non-diabetic patients with severe aortic valve stenosis and 62 control subjects. All patients underwent echocardiographic analysis. Univariate analysis showed a higher prevalence of the XbaI X + /X + genotype (p = 0.007) of apo B and the apo E2 allele (p = 0.034) in patients with severe AS. Apo polymorphisms were not associated with lipid levels, left ventricular mass, or the aortic gradient.

摘要

高胆固醇血症与主动脉瓣狭窄(AS)有关。载脂蛋白(apo)AI、B和E的多态性与血浆脂质水平的变化有关,但这些多态性与AS之间的关联尚不清楚。在一项病例对照研究中,我们纳入了年龄、性别、可比体重指数、高血压、甘油三酯、高密度脂蛋白(HDL)胆固醇和低密度脂蛋白(LDL)胆固醇相匹配的两组人群,分析了62例非糖尿病重度主动脉瓣狭窄患者和62例对照者中apo AI A/G突变、apo B信号肽插入/缺失、apo B XbaI限制性片段长度以及apo E多态性的分布情况。所有患者均接受了超声心动图分析。单因素分析显示,重度AS患者中apo B的XbaI X + /X +基因型(p = 0.007)和apo E2等位基因(p = 0.034)的患病率较高。载脂蛋白多态性与血脂水平、左心室质量或主动脉梯度无关。

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