Association of insertion /deletion polymorphism of ace gene with essential hypertension in patients of Khyber Pakhtunkhwa

Pak J Med Sci. 2024 Jan-Feb;40(3Part-II):461-466. doi: 10.12669/pjms.40.3.7354.

Abstract

Objective &background: The exact cause of hypertension is unknown in about 90 to 95% patients, known as essential hypertension. Genes may play a crucial role in the pathology of essential hypertension. Gene for angiotensin converting enzyme (ACE) is found on long arm of chromosome 17q23, where 287 base pair insertion or deletion (I/D) polymorphism may occur. This study was aimed to assess the association of I/D polymorphism of ACE gene with blood pressure (BP) in Patients of Khyber Pakhtunkhwa (KPK).

Methods: This Descriptive Cross-sectional study was conducted from 1st June 2021 to 30th September 2021 at Kuwait Teaching Hospital, Peshawar. The genomic DNA was extracted from lymphocytes and PCR was performed for identification of ACE I/D polymorphism.

Results: Total 181 individuals (121 Hypertensive and 60 normal) were enrolled in the study. The measured systolic and diastolic BP in cases were 153.91mmHg±12.65 and 92.94mmHg±5.72, respectively while in control were 118.20±17.13 and 74.12mmHg±7.58, respectively. The Deletion Homozygous (DD), Insertion Homozygous (II) and Deletion and Insertion Heterozygous (DI) genotypes in hypertensive patients were 47 (38.84%), 17 (14.04%) and 57 (47.10%) respectively while in Control group the DD, II and DI were 4 (6.66%), 25 (41.66%) and 31 (51.66%) respectively. This study showed association of DD genotypes of the ACE gene with hypertension as compared to healthy individuals.

Conclusion: Individuals with DD genotype may have association with hypertension. polymorphism of ACE gene was proved to be an important genetic marker for essential hypertension in Patients of KPK.

Keywords: ACE gene; Deletion; Hypertension; Insertion.