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意大利冠心病(CAD)女性患者载脂蛋白B和E以及血管紧张素I转换酶(ACE)基因多态性及其与血脂和载脂蛋白水平的关系。

Apolipoproteins B and E, and angiotensin I-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels.

作者信息

Corbo R M, Vilardo T, Mantuano E, Ruggeri M, Gemma A T, Scacchi R

机构信息

Department of Genetics and Molecular Biology and CNR Center of Evolutionary Genetics, La Sapienza University, Rome, Italy.

出版信息

Clin Genet. 1997 Aug;52(2):77-82. doi: 10.1111/j.1399-0004.1997.tb02522.x.

Abstract

The XbaI, EcoRI and the signal peptide insertion/deletion (I/D) polymorphic sites of APOB gene, the CfoI polymorphic site of apolipoprotein E gene (APOE), and the insertion/deletion polymorphism of angiotensin I-converting enzyme (ACE) gene were studied using polymerase chain reaction (PCR) in 55 postmenopausal women with coronary artery disease (CAD) and in 119 control women of equivalent age. Patients and controls were recruited from the population of Rome, considered representative of Central and Southern Italy. There were no significant differences in allele frequencies between the two groups, though APOB X-, R- and I, APOE3, and ACE D alleles were slightly more frequent in the cases than in the controls. The patients did not differ from the controls for plasma total cholesterol (TC), HDL-cholesterol, LDL-cholesterol, and apoAI values, while they presented significantly higher levels of triglycerides and apoB, and lower apoE levels. TC, apoE, and apoB quantitative values, adjusted for age, varied significantly among APOB XbaI and APOE genotypes. APOB X-X- genotype was associated in patients with a significantly lower mean TC concentration than the other two genotypes pooled together. APOE 3-2 genotype in the controls had significantly lower TC levels with respect to the other two pooled genotypic classes and higher apoE levels compared to 3-3 and 4-3 genotypes. In the patients, 3-2 genotype had significantly lower apoB levels than the pooled 3-3 and 4-3 class. We conclude that in the Italian women the DNA polymorphisms studied in this work do not seem to be important risk factors for CAD occurrence; that apoE quantitation could be another useful parameter to identify subjects at risk of CAD; and that APOB X- and APOE2 are the alleles that most influence the interindividual plasma lipid variation among CAD female patients.

摘要

采用聚合酶链反应(PCR)对55例绝经后冠心病(CAD)女性患者和119例年龄相仿的对照女性进行研究,分析载脂蛋白B(APOB)基因的XbaI、EcoRI和信号肽插入/缺失(I/D)多态性位点、载脂蛋白E(APOE)基因的CfoI多态性位点以及血管紧张素I转换酶(ACE)基因的插入/缺失多态性。患者和对照均来自罗马人群,该人群被视为意大利中部和南部的代表。两组之间等位基因频率无显著差异,不过病例组中APOB的X-、R-和I等位基因、APOE3以及ACE的D等位基因频率略高于对照组。患者与对照组在血浆总胆固醇(TC)、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和载脂蛋白AI值方面无差异,但患者的甘油三酯和载脂蛋白B水平显著更高,载脂蛋白E水平更低。经年龄校正后,APOB XbaI和APOE基因型的TC、载脂蛋白E和载脂蛋白B定量值差异显著。患者中,APOB X-X-基因型的平均TC浓度显著低于其他两种基因型合并后的浓度。对照组中,APOE 3-2基因型的TC水平显著低于其他两种合并的基因型类别,且与3-3和4-3基因型相比,载脂蛋白E水平更高。在患者中,3-2基因型的载脂蛋白B水平显著低于3-3和4-3合并基因型类别。我们得出结论,在意大利女性中,本研究中所研究的DNA多态性似乎并非CAD发生的重要危险因素;载脂蛋白E定量可能是识别CAD风险人群的另一个有用参数;并且APOB X-和APOE2是对CAD女性患者个体间血浆脂质变化影响最大的等位基因。

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