Angiotensin-converting enzyme insertion/deletion gene polymorphism in Egyptian children with CAP: A case-control study

Pediatr Pulmonol. 2017 Dec;52(12):1592-1598. doi: 10.1002/ppul.23886. Epub 2017 Oct 13.

Abstract

Background: Community-acquired pneumonia (CAP) is a major cause of childhood morbidity and mortality worldwide. The angiotensin-converting enzyme (ACE) gene is a potential candidate gene for CAP risk.

Objectives: In this study, we aimed to investigate whether the ACE insertion/deletion (I/D) polymorphism (rs4340) could be a genetic marker for CAP susceptibility in Egyptian children, and we also measured the serum ACE level to assess its relation to such polymorphism.

Methods: This was a prospective case-control study included 300 patients with CAP, and 300 age, gender, and ethnicity matched healthy controls. The ACE I/D polymorphism (rs4340) at intron 16 was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while the serum ACE levels were measured by ELISA.

Results: Compared to the controls subjects, the frequencies of the ACE DD genotype and D allele were overrepresented in patients with CAP (OR = 3.05; [95%CI: 2.14-4.35] for the DD genotype; P < 0.001) and (OR: 1.8; [95%CI: 1.42-2.29]; for the D allele; P < 0.01, respectively). Patients with the DD genotype had significantly higher mean serum ACE levels (45.6 ± 11.4 U/L) compared to those with ID genotype (36.5 ± 8.3 U/L) and II genotype (21.6 ± 5.7 U/L); P < 0.01, respectively.

Conclusion: The ACE I/D polymorphism (rs4340) may contribute to the genetic susceptibility of CAP in Egyptian children. The ACE D allele and DD genotype were associated with higher serum ACE levels among studied CAP patients.

Keywords: angiotensin-converting enzyme; children; community acquired pneumonia; gene polymorphism.

MeSH terms

  • Alleles
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Community-Acquired Infections / blood
  • Community-Acquired Infections / epidemiology
  • Community-Acquired Infections / genetics*
  • Egypt / epidemiology
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Peptidyl-Dipeptidase A / blood
  • Peptidyl-Dipeptidase A / genetics*
  • Pneumonia / blood
  • Pneumonia / epidemiology
  • Pneumonia / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Prospective Studies

Substances

  • Peptidyl-Dipeptidase A