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NOS3 tagSNPs does not modify the chronic kidney disease progression in autosomal dominant polycystic kidney disease
Author(s) -
Ramanathan Gnanasambandan,
Periyasamy Soundararajan,
Lakkakula Bhaskar VKS
Publication year - 2014
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/nep.12278
Subject(s) - autosomal dominant polycystic kidney disease , single nucleotide polymorphism , haplotype , kidney disease , medicine , genotype , polycystic kidney disease , linkage disequilibrium , genetics , endocrinology , bioinformatics , disease , biology , gene
Aim Autosomal dominant polycystic kidney disease ( ADPKD ) is the most common hereditary and progressive renal disorder. It is also recognised as the most frequent genetic cause of chronic kidney diseases ( CKD ). In the present study, four tagging SNPs and two more well studied polymorphisms (Intron 4 VNTR and Glu298Asp ) the NOS3 gene were investigated to unravel the potential modifier effect of NOS3 gene on the progression of CKD in ADPKD . Methods A total of 102 ADPKD patients and 106 controls were selected for the study. The tagSNPs and Glu298Asp polymorphisms were genotyped using FRET ‐based KASPar method and intron‐4 VNTR by polymerase chain reaction electrophoresis. The genotypes and haplotypes in the controls and ADPKD subjects were analysed by χ 2 tests and haploview software. M antel‐ H aenszel stratified and univariate analyses were performed to estimate the influence of different genotypes between different CKD stages and hypertension. Results The tagSNPs of NOS3 genotypes and haplotypes did not exhibit any significant differences between controls and ADPKD patients. The significant linkage disequilibrium was observed between the rs3918184 and rs2853796 by forming LD block. In univariate analysis, the age and family history of D iabetes mellitus ( DM ) showed significant association with advancement of CKD , but not with the eNOS polymorphisms. Conclusions Our data suggests that there is no evidence for the involvement of NOS3 tag SNPs in the progression to CKD in ADPKD patients. A systematic study using well validated functional SNPs is necessary to clarify the role of the NOS3 gene in the development of CKD in ADPKD .