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Original Article
Role of endothelial nitric oxide synthase VNTR (intron 4 a/b) polymorphism on the progression of renal disease in autosomal dominant polycystic kidney disease
Ramprasad Elumalai
1, Soundararajan Periasamy
1*, Gnanasambandan Ramanathan
2, Bhaskar VKS Lakkakula
2,31 Department of Nephrology, Sri Ramachandra Medical College and Hospital, Sri Ramachandra University, Chennai, India
2 Department of Biomedical Sciences, Sri Ramachandra University, Chennai, India
3 Sickle Cell Institute Chhattisgarh, Raipur, India
*Corresponding Author: *Corresponding author: Dr. Periasamy Soundararajan, Department of Nephrology, Sri Ramachandra University. No. 1, Ramachandra Nagar, Porur, Chennai- 600116, Phone: +91-9840173202, , Email:
srajan_51@hotmail.com
Abstract
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder, and it is mainly associated with renal cyst formation. Several studies have also shown that these mutations regulate the physiology of epithelial tissues and determine renal cyst formation and growth in polycystic kidney disease (PKD). Nitric oxide (NO) is also considered to be an important factor involved in the deterioration of renal function.Objectives: The aim of the current study is to determine the frequency of NOS3 27-bp VNTR in ADPKD patients and to investigate the role of NOS3 27-bp VNTR genotypes in the modification of progression of renal disease in ADPKD.Patients and Methods: The hypothesis was investigated by studying the South Indian population of 53 ADPKD patients and 94 unrelated healthy controls. The genotyping was performed by polymerase chain reaction and electrophoresis. Genotypes were compared between ADPKD and controls using the χ2-test. Univariate and multivariate logistic regression analyses were performed to assess the effect of genotypes and hypertension on the progress of chronic kidney disease (CKD). A stratified analysis was also performed to assess the evidence of the modification of hypertension-CKD relationship among VNTR genotypes.Results: The NOS3 4a allele frequencies were 21.3% and 13.2% respectively for controls and ADPKD groups. The NOS3 VNTR genotypes and alleles were not associated with ADPKD. The univariate analysis showed that age, hypertension and NOS3 VNTR influenced the advancement of CKD.Conclusion: The present study confirms the significant association between the 27-bp VNTR and CKD advancement among the ADPKD patients in the South Indian population.
Implication for health policy/practice/research/medical education:
In the present study, nitric oxide synthase (NOS 3) gene 27-bp VNTR polymorphism was investigated in autosomal dominant polycystic kidney disease (ADPKD) and healthy subjects. This study demonstrated that the distribution of NOS3 VNTR genotypes in ADPKD did not differ from those in controls. But the influence of NOS3 VNTR on the progression of chronic kidney disease (CKD) in ADPKD was observed. NOS3 VNTR 4a allele might be a valuable indicator in the prediction of progress of CKD in south Indian populations.
Please cite this paper as: Elumalai R, Periasamy S, Ramanathan G, Lakkakula BV. Role of endothelial nitric oxide synthase VNTR (intron 4 a/b) polymorphism on the progression of renal disease in autosomal dominant polycystic kidney disease. J Renal Inj Prev 2014; 3(3): 69-73. DOI: 10.12861/jrip.2014.21