Methylation of the Promoter Inversely Correlates with its Expression in Autosomal Dominant Polycystic Kidney Disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD), a multisystem disorder, is the most prevalent type of hereditary kidney disease. Here, we aimed to evaluate methylation of the gene () promoter and its correlation with expression in peripheral blood.

Methods: In this case-control study methylation of the promoter was evaluated using methylation-sensitive high-resolution melt (MS-HRM) analysis. expression was assessed by quantitative real-time PCR. The correlation was evaluated using the Pearson correlation test.

Results: Twenty subjects from both the patient and control groups (n= 40 for each) were methylated at the promoter to various levels (18.9% in patients and 62.5% in controls). This difference was statistically significant (p< 0.0001). expression in blood samples was significantly greater in ADPKD patients than in controls (p= 0.0081). Significant correlation was seen between expression and its promoter methylation status in peripheral blood (r case= -0.5300, p= 0.0162, and r control = -0.6265, p= 0.0031).

Conclusion: Methylation of the promoter in ADPKD patients was inversely correlated with expression.