PKD1 gene rs7185040 polymorphism and progression of chronic kidney disease in patients with ADPKD

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a commonly encountered genetic condition contributing to chronic renal failure in both pediatric and adult populations. Roughly 89% of individuals with ADPKD exhibit mutation in either the PKD1 or PKD2 genes. If there is a family history of the disease, PKD1 is the predominant gene associated. Objectives: The objective of this research was to investigate tag-single nucleotide polymorphisms (tag-SNPs) rs7185040 within the PKD1 gene in the advancement of chronic kidney disease (CKD) among individuals affected by ADPKD. Patients and Methods: In this current case-control study, we examined the prevalence of PKD1 tag SNP rs7185040 within a cohort comprising 102 ADPKD-affected individuals and 106 control subjects. We utilized the fluorescent resonance energy transfer (FRET)-based KASPar method for genotyping the PKD 1 tag SNP. We employed the χ2 association test to unravel the CKD progression among the ADPKD and to find an association between those with ADPKD and controls. Results: The AA, AC and CC genotypes of PKD1 tag SNP (rs7185040) as well as the A and C alleles showed no notable significance in distribution between patients with ADPKD and controls. In addition, there was no significant difference in distribution of PKD1 (rs7185040) genotypes between early and advanced stages of CKD among the ADPKD cohort. Conclusion: Our results indicated no significant association between the PKD1 polymorphism rs7185040 and CKD progression in ADPKD patients.