Angiotensin Converting Enzyme Gene I/D Polymorphism in Pakistani Rheumatic Heart Disease Patients and Healthy Controls


Sadia Rehman 1 , * , Nusrat Saba 1 , Naveed Akhtar 2 , Saeeda Munir 1 , Waqar Ahmed 3 , Azra Khanum 4

1 Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan

2 Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan

3 Armed Forces Institute of Cardiology and National Institute of Heart diseases, Rawalpindi, Pakistan

4 Pir Mehr Ali Shah Arid Agriculture University, Rawlpindi, Pakistan

How to Cite: Rehman S , Saba N , Akhtar N , Munir S , Ahmed W , et al. Angiotensin Converting Enzyme Gene I/D Polymorphism in Pakistani Rheumatic Heart Disease Patients and Healthy Controls, Int Cardio Res J. 2017 ; 9(3):e11238.


International Cardiovascular Research Journal: 9 (3); e11238
Published Online: September 30, 2017
Article Type: Research Article
Received: February 28, 2017
Accepted: April 08, 2015


Background: Valve scarring and collagen deposition are crucial in pathogenesis of Rheumatic Heart Disease (RHD), an autoimmune disorder of the heart. Angiotensin I-Converting Enzyme (ACE) plays a major role in fibrous tissue formation.

Objectives: The present research work aimed to assess the role of ACE Insertion/Deletion (I/D) polymorphism in progress of RHD.

Patients and Methods: DNA was pre pared from blood samples from 156 RHD patients (156) and 204 healthy ethnically-matched controls. Then, it was screened using sequence-specific Primers. Polymerase chain reaction and Agarose gel electrophoresis. The data were analyzed using Vassar stats (

Results: I allele (P = 0.024, OR = 1.42) and II genotype (P = 0.001, OR = 3.07) were significantly higher in Pakistani RHD patients compared to the healthy controls. Also, a significant difference was found between the female, but not male, patients and the controls regarding I allele and II genotype.

Conclusions: The study results provided information about involvement of ACE I/D polymorphism in molecular mechanism of RHD. Thus, it can become one of the useful tools in risk assessment and help with designing strategies to combat the disease.


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