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载脂蛋白B基因XbaI/EcoRI多态性的X-X-/E+E+基因型作为巴西样本中冠状动脉疾病的标志物。

The X-X-/E+E+ genotype of the XbaI/EcoRI polymorphisms of the apolipoprotein B gene as a marker of coronary artery disease in a Brazilian sample.

作者信息

Scartezini M, Zago M A, Chautard-Freire-Maia E A, Pazin-Filho A, Marin-Neto J A, Hotta J K S, Nascimento A J, Dos-Santos J E

机构信息

Departamento de Patologia Médica, Universidade Federal do Paraná, Curitiba, PR, Brasil.

出版信息

Braz J Med Biol Res. 2003 Mar;36(3):369-75. doi: 10.1590/s0100-879x2003000300012. Epub 2003 Mar 7.

DOI:10.1590/s0100-879x2003000300012
PMID:12640502
Abstract

Studies that consider polymorphisms within the apolipoprotein B (apo B) gene as risk factors for coronary artery disease (CAD) have reported conflicting results. The aim of the present study was to search for associations between two DNA RFLPs (XbaI and EcoRI) of the apo B gene and CAD diagnosed by angiography. In the present study we compared 116 Brazilian patients (92 men) with CAD (CAD+) to 78 control patients (26 men) without ischemia or arterial damage (CAD-). The allele frequencies at the XbaI (X) and EcoRI (E) sites did not differ between groups. The genotype distributions of CAD+ and CAD- patients were different (chi (1) = 6.27, P = 0.012) when assigned to two classes (X-X-/E+E+ and the remaining XbaI/EcoRI genotypes). Multivariate logistic regression analysis showed that individuals with the X-X-/E+E+ genotype presented a 6.1 higher chance of developing CAD than individuals with the other XbaI/EcoRI genotypes, independently of the other risk factors considered (sex, tobacco consumption, total cholesterol, hypertension, and triglycerides). We conclude that the X-X-/E+E genotype may be in linkage disequilibrium with an unknown variation in the apo B gene or with a variation in another gene that affects the risk of CAD.

摘要

将载脂蛋白B(apo B)基因内的多态性视为冠状动脉疾病(CAD)危险因素的研究报告了相互矛盾的结果。本研究的目的是寻找apo B基因的两种DNA限制性片段长度多态性(XbaI和EcoRI)与经血管造影诊断的CAD之间的关联。在本研究中,我们将116例巴西CAD患者(92例男性)与78例无缺血或动脉损伤的对照患者(26例男性)进行了比较。XbaI(X)和EcoRI(E)位点的等位基因频率在两组之间没有差异。当分为两类(X-X-/E+E+和其余的XbaI/EcoRI基因型)时,CAD+和CAD-患者的基因型分布不同(卡方(1)=6.27,P = 0.012)。多因素逻辑回归分析表明,与其他XbaI/EcoRI基因型个体相比,具有X-X-/E+E+基因型的个体患CAD的几率高6.1倍,与所考虑的其他危险因素(性别、烟草消费、总胆固醇、高血压和甘油三酯)无关。我们得出结论,X-X-/E+E基因型可能与apo B基因中未知变异或与影响CAD风险的另一个基因的变异处于连锁不平衡状态。

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