title: The -974C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk of developing acute coronary syndrome in Mexican patients.
abstract: Endothelial dysfunction plays an essential role in the development and progression of atherosclerotic lesions. Endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) are considered important molecules in the endothelial dysfunction process. The aim of the present study was to evaluate the role of eNOS and ET-1 (EDN1) gene polymorphisms as susceptibility markers for acute coronary syndrome (ACS). Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and EDN1 genes were analyzed by 5' exonuclease TaqMan genotyping assays in a group of 452 patients with ACS and 283 healthy controls. The results showed increased frequencies of the A allele of the END1-914 C>A (rs3087459) polymorphism in ACS patients when compared to controls (OR=1.56, Pc=0.01). Under an additive model, the "AA" genotype was associated with an increased risk of developing ACS, adjusted for gender, hypertension, dyslipidemia, alcohol consumption, smoking, and diabetes (OR=1.56, p=0.045). Linkage disequilibrium analysis showed one EDN1 haplotype (AT) with increased frequency in ACS patients when compared to healthy controls (OR=1.65, Pc=0.0015). The "AT" haplotype was associated with the risk of developing ACS after adjusting for cardiovascular risk factors using multiple logistic analysis. In this case, the adjusted OR was 1.73 for the AT haplotype (Pc=0.0018). In summary, resulting data suggest that the END1-914 C>A gene polymorphism could be involved in the risk of developing ACS in Mexican individuals.
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Vargas-Alarcon
authors.affiliation: Department of Sociomedicine, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Maite
authors.initials: M
authors.lastname: Vallejo
authors.affiliation: Department of Endocrinology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Carlos
authors.initials: C
authors.lastname: Posadas-Romero
authors.affiliation: Department of Endocrinology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Juan G
authors.initials: JG
authors.lastname: Juarez-Rojas
authors.affiliation: Departament of Interventional Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Martinez-Rios
authors.affiliation: Departament of Interventional Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Peña-Duque
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Silvia
authors.initials: S
authors.lastname: Carrillo-Sanchez
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
authors.forename: Oscar
authors.initials: O
authors.lastname: Perez-Mendez
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico. Electronic address: mfragoso1275@yahoo.com.mx.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Fragoso
mesh_terms: D054058:Acute Coronary Syndrome / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D016022:Case-Control Studies; D050171:Dyslipidemias / Q000235:genetics; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008800:Mexico; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D019332:Endothelin-1; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III
keywords: Acute coronary syndrome; Genetic susceptibility; Polymorphisms