The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration

The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration

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 <i>LDLR<...

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Main Authors: Gilberto Vargas-Alarcon, Oscar Perez-Mendez, Julian Ramirez-Bello, Rosalinda Posadas-Sanchez, Hector Gonzalez-Pacheco, Galileo Escobedo, Betzabe Nieto-Lima, Elizabeth Carreon-Torres, Jose Manuel Fragoso
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Biomolecules
Subjects:
genetics
single nucleotide polymorphism
acute coronary syndrome
Online Access:https://www.mdpi.com/2218-273X/10/10/1381
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spelling doaj-ac85f3fe18bf44cfa2785b4289df81252020-11-25T03:14:14ZengMDPI AGBiomolecules2218-273X2020-09-01101381138110.3390/biom10101381The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol ConcentrationGilberto Vargas-Alarcon0Oscar Perez-Mendez1Julian Ramirez-Bello2Rosalinda Posadas-Sanchez3Hector Gonzalez-Pacheco4Galileo Escobedo5Betzabe Nieto-Lima6Elizabeth Carreon-Torres7Jose Manuel Fragoso8Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoResearch Unit on Endocrine and Metabolic Diseases, Hospital Juarez de México, Mexico City 01460, MexicoDepartment of Endocrinology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoUnit Coronary, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoUnit of the Experimental Medicine, Hospital General de Mexico, Dr. Eduardo Liceaga, Mexico City 06726, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City 14080, MexicoDyslipidemia 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 <i>LDLR</i> gene polymorphisms are significantly associated with ACS and the plasma lipids profile. Three <i>LDLR</i> gene polymorphisms located in the <i>UTR′3</i> region (c.*52 <i>A/G</i>, c.*504 <i>A/G</i>, and c.* 773 <i>A/G</i>) 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 <i>c.*52 A</i> allele of the <i>c.*52 A/G</i> polymorphism was associated with a higher risk of ACS (OR = 2.02, <i>pC</i><sub>Co-dom</sub> = 0.033, and OR = 2.00, <i>pC</i><sub>Res</sub> = 0.009, respectively). In the same way, under co-dominant and recessive models, the <i>c.*773 G</i> allele of the <i>c.*773 A/G</i> polymorphism was associated with a high risk of ACS (OR = 2.04, <i>pC</i><sub>Co-dom</sub> = 0.027, and OR = 2.01, <i>pC</i><sub>Res</sub> = 0.007, respectively). The “<i>AAG”</i> haplotype was associated with a high risk of ACS (OR = 1.22, <i>pC</i> = 0.016). The <i>c.*52 AA</i> genotype showed a lower HDL-C concentration than individuals with the <i>GG</i> genotype. In addition, carriers of <i>c.*773 GG</i> genotype carriers had a lower concentration of the high-density lipoprotein-cholesterol (HDL-C) than subjects with the <i>AA</i> genotype. Our data suggest the association of the <i>LDLR</i><i>c.*773 A/G</i> and <i>LDLR c.*52 A/G</i> polymorphisms with both the risk of developing ACS and with a lower concentration of HDL-C in the study population.https://www.mdpi.com/2218-273X/10/10/1381geneticssingle nucleotide polymorphismacute coronary syndrome
collection DOAJ
language English
format Article
sources DOAJ
author Gilberto Vargas-Alarcon
Oscar Perez-Mendez
Julian Ramirez-Bello
Rosalinda Posadas-Sanchez
Hector Gonzalez-Pacheco
Galileo Escobedo
Betzabe Nieto-Lima
Elizabeth Carreon-Torres
Jose Manuel Fragoso
spellingShingle Gilberto Vargas-Alarcon
Oscar Perez-Mendez
Julian Ramirez-Bello
Rosalinda Posadas-Sanchez
Hector Gonzalez-Pacheco
Galileo Escobedo
Betzabe Nieto-Lima
Elizabeth Carreon-Torres
Jose Manuel Fragoso
The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
Biomolecules
genetics
single nucleotide polymorphism
acute coronary syndrome
author_facet Gilberto Vargas-Alarcon
Oscar Perez-Mendez
Julian Ramirez-Bello
Rosalinda Posadas-Sanchez
Hector Gonzalez-Pacheco
Galileo Escobedo
Betzabe Nieto-Lima
Elizabeth Carreon-Torres
Jose Manuel Fragoso
author_sort Gilberto Vargas-Alarcon
title The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
title_short The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
title_full The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
title_fullStr The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
title_full_unstemmed The c.*52 <i>A/G</i> and c.*773 <i>A/G</i> Genetic Variants in the UTR′3 of the <i>LDLR</i> Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration
title_sort c.*52 <i>a/g</i> and c.*773 <i>a/g</i> genetic variants in the utr′3 of the <i>ldlr</i> gene are associated with the risk of acute coronary syndrome and lower plasma hdl-cholesterol concentration
publisher MDPI AG
series Biomolecules
issn 2218-273X
publishDate 2020-09-01
description 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 <i>LDLR</i> gene polymorphisms are significantly associated with ACS and the plasma lipids profile. Three <i>LDLR</i> gene polymorphisms located in the <i>UTR′3</i> region (c.*52 <i>A/G</i>, c.*504 <i>A/G</i>, and c.* 773 <i>A/G</i>) 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 <i>c.*52 A</i> allele of the <i>c.*52 A/G</i> polymorphism was associated with a higher risk of ACS (OR = 2.02, <i>pC</i><sub>Co-dom</sub> = 0.033, and OR = 2.00, <i>pC</i><sub>Res</sub> = 0.009, respectively). In the same way, under co-dominant and recessive models, the <i>c.*773 G</i> allele of the <i>c.*773 A/G</i> polymorphism was associated with a high risk of ACS (OR = 2.04, <i>pC</i><sub>Co-dom</sub> = 0.027, and OR = 2.01, <i>pC</i><sub>Res</sub> = 0.007, respectively). The “<i>AAG”</i> haplotype was associated with a high risk of ACS (OR = 1.22, <i>pC</i> = 0.016). The <i>c.*52 AA</i> genotype showed a lower HDL-C concentration than individuals with the <i>GG</i> genotype. In addition, carriers of <i>c.*773 GG</i> genotype carriers had a lower concentration of the high-density lipoprotein-cholesterol (HDL-C) than subjects with the <i>AA</i> genotype. Our data suggest the association of the <i>LDLR</i><i>c.*773 A/G</i> and <i>LDLR c.*52 A/G</i> polymorphisms with both the risk of developing ACS and with a lower concentration of HDL-C in the study population.
topic genetics
single nucleotide polymorphism
acute coronary syndrome
url https://www.mdpi.com/2218-273X/10/10/1381
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