Logo-npj
ePublished: 09 Dec 2015
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - Firefox Plugin)

J Nephropharmacol. 2016;5(1): 13-18.
  Abstract View: 1494
  PDF Download: 948

Original

Endothelin 1 gene is not a major modifier of chronic kidney disease advancement among the autosomal dominant polycystic kidney disease patients

Shiva Nagendra Reddy Annapareddy 1, Ramprasad Elumalai 1 * , Bhaskar V.K.S. Lakkakula 2,3, Gnanasambandan Ramanathan 2, Soundararajan Periyasamy 1

1 Department of Nephrology, Sri Ramachandra University, Chennai, India
2 Department of Biomedical Sciences, Sri Ramachandra University, Chennai, India
3 Sickle Cell Institute Chhattisgarh, Raipur, India
*Corresponding author: Ramprasad Elumalai, ramprasadnephro@gmail.com

Abstract

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the presence of numerous cysts in the kidney and manifest with various renal and extra-renal complications leading to ESRD. Endothelin may contribute to various renal and extra-renal manifestations pointing to genetic and environmental modifying factors that alter the risk of developing chronic kidney disease (CKD) in ADPKD. In the present study we investigated six genes coding for endothelin 1 (EDN1) tagging-single nucleotide polymorphisms (tag-SNPs) to unravel the EDN1 gene modifier effect for renal disease progression in ADPKD.

Materials and Methods: The tag-SNPs were genotyped using FRET-based KASPar method in 108 ADPKD patients and 119 healthy subjects. Cochran-Armitage trend test was used to determine the association between ADPKD and EDN1 tag-SNPs. Multivariate logistic regression analysis was performed to assess the effect of tag-SNPs on CKD progression. The relationship between different CKD stages and hypertension and their interaction Mantel-Haenszel stratified analysis was performed.

Results: All loci are polymorphic and followed Hardy-Weinberg equilibrium. Distribution of EDN1 genotypes and haplotypes in control and ADPKD is not statistically significant. Five SNPs covering 3.4 kb forming single LD block, but the LD was not strong between SNPs. The EDN1 genotypes are not contributing to the CKD advancement among the ADPKD patients.

Conclusion: These results suggest that the EDN1 gene is not a major modifier of CKD advancement among ADPKD patients.

Keywords: Hypertension, Chronic kidney disease, Autosomal dominant polycystic kidney disease

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

The present study evaluated gene coding for endothelin 1 (EDN1) gene polymorphism in autosomal dominant polycystic kidney disease (ADPKD) with chronic kidney disease (CKD) patients and healthy subjects. Our study demonstrated that the distribution of EDN1 genotypes in control and ADPKD is not statistically different. These results imply that the EDN1 gene is not a major modifier of CKD advancement in ADPKD.

Please cite this paper as: Annapareddy SNR, Elumalai R, Lakkakula BVKS, Ramanathan G, Periyasamy S. Endothelin 1 gene is not a major modifier of chronic kidney disease advancement among the autosomal dominant polycystic kidney disease patients. J Nephropharmacol. 2016; 5(1):13-18.

First Name
 
Last Name
 
Email Address
 
Comments
 
Security code


Abstract View: 1494

Your browser does not support the canvas element.


PDF Download: 948

Your browser does not support the canvas element.