title: [K198N polymorphism in the EDN1 gene in patients with pulmonary arterial hypertension].
abstract: OBJECTIVE
  In pulmonary arterial hypertension (PAH) an association with a polymorphism in the endothelin gene (EDN1) has been described. The main objective of this study was to analyze the polymorphism K198N in the gene EDN1 in patients with PAH, correlating the results with clinical and hemodynamic parameters.
  
  
  METHODS
  We compared 41 patients diagnosed with idiopathic and associated PAH of group i with 50 healthy controls. Polymerase chain reaction and direct sequencing were used to analyze the polymorphism K198N. We compared the genotype distribution and searched for a correlation with clinical, hemodynamic and therapeutic response.
  
  
  RESULTS
  Genotype GG was present in 42% of patients in this study and 65% of controls. The GT+TT genotypes appeared in 58% of patients and in 35% of controls. Statistically significant differences between patients and controls (P=.032) were detected, with a relative risk in carriers of having the T allele of 2.51 (95% CI 1.07 to 5.86). The analysis by PolyPhen software defined K198N change as pathogenic. No significant differences in the response to treatment at medium term were found.
  
  
  CONCLUSIONS
  The genotype analysis of the EDN1 gene polymorphism shows statistically significant differences in patients with PAH compared to healthy individuals. Individuals carrying at least one T allele exhibit a higher relative significant risk to develop HAP.
authors: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España; Instituto de Investigación Biomédica de Vigo (IBIV), Vigo, Pontevedra, España.
authors: Guillermo
authors: G
authors: Pousada
authors: Servicio de Neumología, Complexo Hospitalario de Pontevedra, Pontevedra, España.
authors: Adolfo
authors: A
authors: Baloira
authors: Servicio de Neumología, Hospital Xeral de Vigo, Vigo, Pontevedra, España.
authors: Carlos
authors: C
authors: Vilariño
authors: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España; Instituto de Investigación Biomédica de Vigo (IBIV), Vigo, Pontevedra, España. Electronic address: dianaval@uvigo.es.
authors: Diana
authors: D
authors: Valverde
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D019332:Endothelin-1; D005819:Genetic Markers
keywords: EDN1; Endotelina; Endothelin; Hipertensión arterial pulmonar; Polimorfismo; Polymorphism; Pulmonary arterial hypertension