title: [The effect of polymorphisms of the angiotensin-converting enzyme and angiotensinogen genes on the phenotypic expression of Spanish patients with hypertrophic cardiomyopathy].
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) has a great variability in its morphofunctional expression. This study analyzes whether angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) gene polymorphisms modulate the phenotypic expression in Spanish patients with HCM.
  
  
  METHODS
  Forty Spanish HCM patients were studied. Twenty-six out of these 40 patients belonged to 7 families with familial HCM, and the remaining 14 patients had either a sporadic HCM or a HCM with unknown family incidence. A group of 269 healthy subjects was included as control for the genotype study. Maximal wall thickness, ventricular mass and several diastolic function indexes were measured in each patient by Doppler-echocardiography. The insertion/deletion (I/D) polymorphism of ACE gene and the M235T polymorphism of AGT gene were studied in both patients and healthy subjects.
  
  
  RESULTS
  A higher frequency in patients than in controls was found for D allele (0.79 vs 0.64; p = 0.02) and for DD genotype (62.5 vs 41.2%; p = 0.02). Conversely, no difference was observed in M235T polymorphism between both groups. Neither DD genotype of ACE, nor TT genotype of AGT determined a greater degree of ventricular hypertrophy or a worse diastolic function in patients with HCM.
  
  
  CONCLUSIONS
  D allele and DD genotype are predisposing factors to express HCM. In this series of Spanish patients, I/D polymorphism of ACE and M235T polymorphism of AGT do not modify phenotypic expression of HCM.
authors.affiliation: Servicio de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla. lhaldon@interbook.net
authors.forename: J
authors.initials: J
authors.lastname: López-Haldón
authors.forename: J R
authors.initials: JR
authors.lastname: García-Lozano
authors.forename: A
authors.initials: A
authors.lastname: Martínez Martínez
authors.forename: A
authors.initials: A
authors.lastname: Núñez-Roldán
authors.forename: J
authors.initials: J
authors.lastname: Burgos Cornejo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000808:Angiotensinogen / Q000235:genetics*; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics*; D015342:DNA Probes; D015150:Echocardiography, Doppler / Q000706:statistics & numerical data; D005260:Female; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics*; D013030:Spain
chemical_list: D015342:DNA Probes; D000808:Angiotensinogen; D007703:Peptidyl-Dipeptidase A