Angiotensin-converting enzyme insertion/deletion (ACE I/D) gene polymorphism in Egyptian children with congenital heart disease

Birth Defects Res. 2020 Aug;112(13):963-969. doi: 10.1002/bdr2.1700. Epub 2020 Apr 28.


Background: Congenital heart diseases (CHDs) are the leading cause of infant deaths worldwide. The relationship between angiotensin-converting enzyme (ACE) gene polymorphism and CHDs is not clear. The aim of this work is to assess the presence of an association between ACE I/D polymorphism and CHD in Egyptian population.

Subjects and methods: Seventy CHD cases and 70 controls were incorporated in this study. DNA was isolated from their peripheral blood, and then ACE I/D gene polymorphism was tested by polymerase chain reaction (PCR).

Results: There was no significant difference among the frequencies of the DD, II, and DI genotypes in patients and controls (26 [37.1%], 37 [53.3%], and 4 [5.7%], 5 [6.7%]), 40 (57.2%), 28 (40%), respectively (p value = 1 and OR [95% CI] = 1.1). There was no significant difference between D allele (DD + DI) and II genotype distribution among patients and controls (p value = 1 and OR [95% CI] = 1.2 [0.3-2.9]). Moreover, there was no difference between I allele (II + DI) and DD frequency (p value = 0.2 and OR [95% CI] = 0.6 [0.3-1.2]).

Conclusions: ACE I/D gene polymorphism might not be a risk factor of CHD in Egyptian children. Additional widespread studies are needed to affirm these data.

Keywords: ACE gene polymorphism; Egypt; congenital heart disease.

MeSH terms

  • Angiotensins
  • Child
  • Egypt
  • Gene Frequency
  • Heart Defects, Congenital* / genetics
  • Humans
  • Peptidyl-Dipeptidase A / genetics
  • Polymorphism, Genetic* / genetics


  • Angiotensins
  • ACE protein, human
  • Peptidyl-Dipeptidase A