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Clin Exp Hypertens. 2018;40(2):186-191. doi: 10.1080/10641963.2017.1356842. Epub 2017 Oct 23.

A case control association study of ACE gene polymorphism (I/D) with hypertension in Punjabi population from Faisalabad, Pakistan.

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a Diabetes and Cardio-Metabolic Disorders Lab, Health Biotechnology Division , National Institute for Biotechnology and Genetic Engineering (NIBGE) , Faisalabad , Pakistan.
b Pakistan Institute of Engineering and Applied Sciences (PIEAS) , Nilore , Islamabad , Pakistan.
c Department of Biotechnology , University of Sargodha , Sargodha , Pakistan.


Angiotensin converting enzyme (ACE) is a key component of renin angiotensin aldosterone system. It converts angiotensin I to angiotensin II. Insertion/deletion (I/D) polymorphism of ACE gene is found associated with several complications. However, its association with hypertension and related metabolic diseases is still controversial. So, the aim of the present study was to check this association for Punjabi population from Faisalabad, Pakistan. For this purpose, blood samples (patients = 100, controls = 48) were collected and several biochemical parameters were measured. Genotyping for ACE (I/D) polymorphism was performed by polymerase chain reaction (PCR) assay. ID genotype is found prevalent in the studied population as 41% in control subjects and 61% in patients. Furthermore, chi-square analysis showed significant (p = 0.005) difference for genotypic frequencies between both groups. One-way ANOVA for association of II, ID, and DD genotypes with anthropometric, clinical, and biochemical parameters showed that in patient group, DD genotype is significantly (p = 0.041) associated with systolic blood pressure (SBP). Moreover, ID genotype is found associated with the presence of cardiovascular diseases. This study concludes that DD genotype is strongly associated with higher SBP in hypertensive patients.


ACE; DD genotype; I/D polymorphism; RAAS; cardiovascular diseases; hypertension

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