Avakian S D, Annicchino-Bizzacchi J M, Grinberg M, Ramires J A, Mansura A P
Heart Institute InCor, University of São Paulo Medical School, São Paulo, Brazil.
Clin Genet. 2001 Nov;60(5):381-4. doi: 10.1034/j.1399-0004.2001.600511.x.
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.
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。
