Insertion/deletion polymorphism of ACE gene in females with peripartum cardiomyopathy: A case-control study

Indian Heart J. 2018 Jan-Feb;70(1):66-70. doi: 10.1016/j.ihj.2017.05.020. Epub 2017 Jun 1.

Abstract

Background: The role of polymorphism of Angiotensin converting enzyme (ACE) gene and ACE activity in etiopathogenesis, prognosis, and many other clinical parameters in the various form of the cardiovascular disease has been established to some degree of certainty. The pathophysiology of Peripartum cardiomyopathy (PPCM) remains an area of active research. The main aim of our study was to see pattern of ACE- Insertion/Deletion (I/D) allele in PPCM and its implications on left ventricular performance indices.

Methods: This single-center case-control study included 45 cases and 70 controls. The diagnosis of PPCM was established clinically and echocardiographically. ACE genotyping was done by polymerase chain reaction (PCR) method in all subjects.

Results: The II, ID, and DD genotype was present in 16, 18 and 11 of subjects with PPCM and 48, 19 and 3 of controls respectively. The odds ratio for ACE-II genotype in cases vs. controls was 0.253 (95% CI=0.114-0.558; p=0.007), for that of II genotype was 1.93 (95% CI=0.86-4.3; p=0.107) and for DD genotype was 7.225 (95% CI; 1.88-27.6; p=0.0039). Overall frequency of D allele in cases was significantly higher than controls (odds=4.25; 95% CI=2.01-6.7; p=0.0001). Moreover, ejection fraction, left ventricular volume and linear dimensions were worse in patients with DD genotype.

Conclusion: ACE DD genotype and overall frequency of D allele is significantly higher in patients with PPCM. Also, the presence of DD genotype is associated with worse systolic performance indices measured echocardiographically.

Keywords: Angiotensin converting enzyme gene; Echocardiography; Heart failure; Peripartum cardiomyopathy.

MeSH terms

  • Adult
  • Alleles
  • Cardiomyopathies / epidemiology
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / metabolism
  • Case-Control Studies
  • DNA / genetics*
  • Female
  • Genotype
  • Humans
  • India / epidemiology
  • Peptidyl-Dipeptidase A / genetics*
  • Peptidyl-Dipeptidase A / metabolism
  • Peripartum Period / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prevalence
  • Young Adult

Substances

  • DNA
  • Peptidyl-Dipeptidase A