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基因 UTR'3 中的 c.*52 和 c.*773 遗传变异与急性冠状动脉综合征风险和较低的血浆 HDL-胆固醇浓度相关。

The c.*52 and c.*773 Genetic Variants in the UTR'3 of the Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration.

机构信息

Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, Mexico.

School of Engineering and Scienses, Tecnologico de Monterrey, Campus Ciudad de Mexico, Mexico City 14380, Mexico.

出版信息

Biomolecules. 2020 Sep 29;10(10):1381. doi: 10.3390/biom10101381.

Abstract

Dyslipidemia has a substantial role in the development of acute coronary syndrome (ACS). Low-density lipoprotein receptor (LDLR) plays a critical role in plasma lipoprotein hemostasis, which is involved in the formation of atherosclerotic plaque. This study aimed to evaluate whether gene polymorphisms are significantly associated with ACS and the plasma lipids profile. Three gene polymorphisms located in the region (c.*52 , c.504 , and c. 773 ) were determined using TaqMan genotyping assays in a group of 618 ACS patients and 666 healthy controls. Plasma lipids profile concentrations were determined by enzymatic/colorimetric assays. Under co-dominant and recessive models, the allele of the polymorphism was associated with a higher risk of ACS (OR = 2.02, = 0.033, and OR = 2.00, = 0.009, respectively). In the same way, under co-dominant and recessive models, the allele of the polymorphism was associated with a high risk of ACS (OR = 2.04, = 0.027, and OR = 2.01, = 0.007, respectively). The " haplotype was associated with a high risk of ACS (OR = 1.22, = 0.016). The genotype showed a lower HDL-C concentration than individuals with the genotype. In addition, carriers of genotype carriers had a lower concentration of the high-density lipoprotein-cholesterol (HDL-C) than subjects with the genotype. Our data suggest the association of the and polymorphisms with both the risk of developing ACS and with a lower concentration of HDL-C in the study population.

摘要

血脂异常在急性冠状动脉综合征 (ACS) 的发生发展中起着重要作用。低密度脂蛋白受体 (LDLR) 在血浆脂蛋白止血中起关键作用,涉及动脉粥样硬化斑块的形成。本研究旨在评估基因多态性是否与 ACS 和血浆脂质谱显著相关。在 618 例 ACS 患者和 666 例健康对照者中,使用 TaqMan 基因分型检测确定位于区域的 3 个基因多态性 (c.*52, c.504, 和 c. 773 )。采用酶比色法测定血浆脂质谱浓度。在共显性和隐性模型下,多态性的 等位基因与 ACS 的高风险相关(OR=2.02, = 0.033, 和 OR=2.00, = 0.009,分别)。同样,在共显性和隐性模型下,多态性的 等位基因与 ACS 的高风险相关(OR=2.04, = 0.027, 和 OR=2.01, = 0.007,分别)。“ haplotype 与 ACS 的高风险相关(OR=1.22, = 0.016)。与 基因型个体相比, 基因型表现出较低的 HDL-C 浓度。此外,与 基因型携带者相比, 基因型携带者的高密度脂蛋白胆固醇 (HDL-C) 浓度较低。我们的数据表明,在研究人群中,和 多态性与 ACS 的发病风险以及 HDL-C 浓度降低有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a422/7599626/085582cacc86/biomolecules-10-01381-g001.jpg

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