ACE insertion/deletion, but not -240A>T polymorphism, modulates the severity in heart failure

J Investig Med. 2008 Dec;56(8):1004-10. doi: 10.2310/JIM.0b013e31818e8028.

Abstract

Objective: : ACE gene is reported to be a candidate gene in heart failure. The insertion/deletion (I/D) polymorphism has been observed to be a predictor of mortality in this disease, but no data are available concerning the role of ACE -240A>T polymorphism. In this study, we investigated the role of ACE I/D and -240A>T polymorphisms in influencing both severity and clinical outcomes in patients with heart failure, according to New York Heart Association (NYHA) class.

Patients: : We studied 323 patients with heart failure (258 men/65 women; age, 70.8 +/- 11.5 years) followed-up for 11.9 +/- 6.6 months.

Results: : The ACE D and -240T allele frequency significantly increased according to the NYHA functional class (P = 0.0002 and P < 0.0001, respectively).No significant difference in ACE polymorphism genotype distribution and allele frequency according to N-terminal pro-brain natriuretic peptide tertiles was observed. At multinomial regression analysis, ACE D but not -240T allele has been evidenced to be a significant and independent predictor of severity for both NYHA III and IV classes (P = 0.01 and P = 0.004, respectively). The ACE D allele prevalence was higher, even if not significantly in both death and rehospitalization groups in comparison with survivors and nonrehospitalized (P = 0.6 and P = 0.9, respectively). No difference in -240T allele frequency has been observed for the ACE -240A>T polymorphism, in relation to both death and rehospitalization (P = 0.1 and P = 0.6, respectively).

Conclusions: : This study suggests that ACE I/D polymorphism might represent a predisposing factor to severe heart failure, independently of well-known prognostic markers.

MeSH terms

  • Adult
  • Aged
  • Female
  • Gene Deletion*
  • Genotype
  • Heart Failure / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional*
  • Natriuretic Peptide, Brain / analysis
  • Peptide Fragments / analysis
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic*

Substances

  • Peptide Fragments
  • pro-brain natriuretic peptide (1-76)
  • Natriuretic Peptide, Brain
  • Peptidyl-Dipeptidase A