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

OBJECTIVE: Congenital heart diseases (CHDs) are the leading cause of infant deaths worldwide. Angiotensin-converting enzyme (ACE) gene I/D polymorphism is associated with many cardiovascular diseases. The precise relationship between this polymorphism and CHDs is not clear. The aim of this work is to determine the normal distribution of I/D polymorphism in Saudi citizens and to test for any association between this polymorphism and CHDs in Saudi children. PATIENTS AND METHODS: Ninety-six CHD cases and 145 controls were included in this study. DNA was isolated from their peripheral blood, and then ACE I/D gene polymorphism was assayed by polymerase chain reaction (PCR). RESULTS: There was no significant difference among the frequencies of the DD, DI and II genotypes in patients and controls [39 (41%), 64 (44%), 48 (51%) and 62 (43%), 7 (7%), 19 (13%)] respectively (p-value = 0.3 and OR (95% CI) = 0.3). There was no significant difference between D allele (DD+DI) and II genotype distribution among patients and controls [p-value = 0.2 & OR (95% CI) = 1.9 (0.8-4.7)]. Moreover, there was no difference between I allele (II+DI) and DD frequency [p-value = 0.8 & OR = 0.9, CI = 0.5-1.5]. CONCLUSIONS: ACE I/D gene polymorphism is not associated with CHDs in Saudi children. Further large-scale studies are necessary to establish our findings.