title: Lack of association between endothelin-1 gene variants and myocardial infarction.
abstract: OBJECTIVE
  Endothelin-1 (ET-1) promotes vasoconstriction and cell proliferation, and has been implicated in hypertension and coronary artery disease. Our aim was to analyse the role of the ET-1 gene (EDN1) in the risk for atherosclerosis/myocardial infarction (MI) in a population with smoking as the prevalent risk factor.
  
  
  METHODS
  The study included 316 patients with early onset MI (<55 years old). All were male with at least one diseased coronary vessel. Denaturing high performance liquid chromatography (DHPLC), single-strand conformation analysis (SSCA), and direct sequencing were used to search for DNA variants in the five EDN1 exons and the promoter region. To determine the association of EDN1 polymorphisms with MI, we genotyped the patients and controls (n=350) and compared the allele and genotype frequencies between groups.
  
  
  RESULTS
  We found six common nucleotide changes: -1394 (T/G) and -974 C/A (promoter), +120 ins/del A (exon 1, 5' UTR), 568 A/G (exon 3, E106E), 844 G/T (exon 5, K198N), and 1617 T/C (exon 5, 3' UTR). No rare EDN1-variants specific to the MIpatients were found. None of the EDN1 polymorphisms were significantly associated with early-onset MI in our population. The two promoter polymorphisms were in linkage disequilibrium with K198N, but no haplotype was associated with MI risk.
  
  
  CONCLUSIONS
  In our population, the EDN1 variation did not contribute to early-onset MI.
authors: Genetica Molecular, Hospital Universitario Central Asturias, Oviedo, Spain.
authors: María
authors: M
authors: Palacín
authors: Fernando
authors: F
authors: Rodriguez-Pascual
authors: Julián R
authors: JR
authors: Reguero
authors: Isabel
authors: I
authors: Rodríguez
authors: Pablo
authors: P
authors: Avanzas
authors: Iñigo
authors: I
authors: Lozano
authors: Cesar
authors: C
authors: Morís
authors: Victoria
authors: V
authors: Alvarez
authors: Jorge B
authors: JB
authors: Cannata-Andía
authors: Santiago
authors: S
authors: Lamas
authors: Monica
authors: M
authors: García-Castro
authors: Eliecer
authors: E
authors: Coto
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D050197:Atherosclerosis; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D019332:Endothelin-1 / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012907:Smoking
chemical_list: D019332:Endothelin-1