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Submitted: 17 Aug 2020
Accepted: 02 Nov 2019
ePublished: 29 Nov 2019
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J Renal Inj Prev. 2021;10(1): e04.
doi: 10.34172/jrip.2021.04
  Abstract View: 142
  PDF Download: 59

Original

Evaluation of common polymorphisms of eNOS gene and ACE gene in autosomal dominant polycystic kidney disease patients and their association with hypertension and renal failure

Tahereh Malakoutian 1 ORCID logo, Bahareh Madadi 1 * ORCID logo, Ahmad Ebrahimi 2

1 Department of Nephrology, Hasheminejad Kidney Center, Iran University of Medical Sciences, Tehran, Iran
2 Department of Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
*Corresponding author: Bahareh Madadi, Email: madadibahareh@yahoo.com

Abstract

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most hereditary renal disease that leads to end-stage renal disease (ESRD).

Objectives: Since there is no available parameter to assess the clinical course of ADPKD and its outcome, yet, the aim of our study was evaluation of the association of common polymorphisms of eNOS and ACE genes with clinical manifestations (kidney failure and hypertension) in ADPKD.

Patients and Methods: Seventy-five ADPKD patients and 100 control subjects participated in our study. Around 7.5 cc of whole blood was taken from each participant and sent to the genetic laboratory. DNA was obtained from them by the phenol chloroform extraction and ethanol precipitation techniques. Then genotyping for I/D polymorphism of ACE gene and Glu298 ASP and T786C polymorphisms of eNOS gene was performed by PCR electrophoresis and molecular evaluation by special primers for two genes.

Results: The frequency of DD polymorphism of ACE gene and TC polymorphism of T786C of eNOS were considerably elevated in ADPKD individuals than control subjects. No significant difference between groups regarding Glu298 ASP polymorphisms of eNOS gene was detected. In ADPKD patients, 29 patients (39%) had hypertension, 5 patients (6.7%) had diabetes and 43 patients (57%) had glomerular filtration rate (GFR) below 60 mL/min/1.73 m2 . The polymorphisms of ACE and eNOS genes were not meaningfully different regarding diabetes, high blood pressure, GFR and plasma creatinine in ADPKD individuals (P>0.05).

Conclusion: In our study, we could not find any association between polymorphisms of ACE and eNOS genes with renal insufficiency and hypertension in ADPKD patients.

Keywords: Autosomal dominant polycystic kidney disease, polymorphism of eNOS and ACE genes, Hypertension, Renal insufficiently, End-stage renal disease, Chronic renal failure

Implication for health policy/practice/research/medical education:

In a study on 75 ADPKD individuals and 100 control subjects, we found, the frequency of DD polymorphism of ACE gene in ADPKD patients was meaningfully higher than that in the control group; however the polymorphism of this gene was not significantly different in patients with and without hypertension or renal insufficiency in ADPKD patients. Therefore, despite the increased activity of the renin-angiotensin-aldosterone system in these patients, it seems that the ACE gene polymorphism is not able to determine the progression of blood pressure and renal disease in these patients. However, more studies are necessary on this subject.

Please cite this paper as: Malakoutian T, Madadi B, Ebrahimi A. Evaluation of common polymorphisms of eNOS gene and ACE gene in autosomal dominant polycystic kidney disease patients and their association with HTN and renal failure. J Renal Inj Prev. 2021;10(1):e04. doi: 34.15172/jrip.2021.04.

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