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


Saleh NY, Salem SS, Abo-El Fotoh WM, Soliman SE, Abo-Haded HM.

Birth Defects Res. 2020 Apr 28. doi: 10.1002/bdr2.1700. [Epub ahead of print]

PMID: 32343056

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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.