Background: Hypertension is the leading cause of death globally due to its complications, including
coronary heart disease and stroke. In 2018, hypertension cases in West Java were the second highest
among all populations in Indonesia. Genetics is one of the unmodifiable risk factors for hypertension.
Angiotensin-converting enzyme insertion/deletion (ACE I/D) gene polymorphism could affect ACE
production in the renin-angiotensin-aldosterone system (RAAS), which is linked to the blood pressure
regulation.
Aims: To analyze ACE I/D gene polymorphism as a risk factor for hypertension in Cirebon.
Methods: An observational analysis with a case-control design was used in this study. Blood samples were
collected from 30 hypertensive patients and 30 healthy individuals at Talun Health Center. DNA extraction
was performed to evaluate polymorphisms using ARMS-PCR. Statistical analyses, including the Chi-square
test, Fisher’s exact test, Mann-Whitney test, and Kruskal-Wallis test, were conducted to compare the case
and control groups. The odds ratio was calculated to see the risk of the assessed variables, including
genotype, allele frequency, and the presence of ACE I/D gene polymorphism.
Results: In the case group, the frequency of the II genotype was 2 (6.7%), the ID genotype was 25 (83.3%),
and the DD genotype was 3 (10.0%). In the control group, the frequency of the II genotype was 2 (6.7%),
the ID genotype was 26 (86.7%), and the DD genotype was 2 (6.7%). Statistically, there was no significant
association between ACE I/D gene polymorphisms in essential hypertension patients and healthy people
(p=0.500; OR=1.556; 95% CI=0.241-10.049).
Conclusion: ACE I/D gene polymorphism was not significantly associated with essential hypertension in
Cirebon, West Java, Indonesia.
Keywords: Polymorphism, ACE gene, Insertion-deletion mutation, Blood pressure, Hypertension.