en زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;"><strong><em>Background:</em></strong> 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 <em>PKD1</em> gene (<em>PKD1</em>) promoter and its correlation with <em>PKD1</em> expression in peripheral blood.<br> <br> <strong><em>Methods:</em></strong> In this case-control study methylation of the <em>PKD1</em> promoter was evaluated using methylation-sensitive high-resolution melt (MS-HRM) analysis. <em>PKD1</em> expression was assessed by quantitative real-time PCR. The correlation was evaluated using the Pearson correlation test.<br> <br> <strong><em>Results:</em></strong> Twenty subjects from both the patient and control groups (n= 40 for each) were methylated at the <em>PKD1</em> promoter to various levels (18.9% in patients and 62.5% in controls). This difference was statistically significant (p< 0.0001). <em>PKD1</em> expression in blood samples was significantly greater in ADPKD patients than in controls (p= 0.0081). Significant correlation was seen between <em>PKD1</em> expression and its promoter methylation status in peripheral blood (r case= -0.5300, p= 0.0162, and r control = -0.6265, p= 0.0031).<br> <br> <strong><em>Conclusions:</em></strong> Methylation of the <em>PKD1</em> promoter in ADPKD patients was inversely correlated with <em>PKD1</em> expression.</div> Autosomal Dominant Polycystic Kidney Disease (ADPKD), Epigenetic, Methylation, methylation-sensitive high-resolution melt (MS-HRM) analysis, PKD1 193 198 http://rbmb.net/browse.php?a_code=A-10-299-2&slc_lang=en&sid=1 Fatemeh Hajirezaei 100319475328460017595 100319475328460017595 No Islamic Azad University, Tehran Medical Branch, Tehran, Iran Sayyed Mohammad Hossein Ghaderian sghaderian@yahoo.co.uk. 100319475328460017596 100319475328460017596 Yes Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran & Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Mandana Hasanzad 100319475328460017597 100319475328460017597 No Islamic Azad University, Tehran Medical Branch, Tehran, Iran Mohsen Nafar nafar@sbmu.ac.ir 100319475328460017598 100319475328460017598 No Chronic kidney disease research center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Mohammad Hassan Ghadiani 100319475328460017599 100319475328460017599 No Taleqani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Sajjad Biglari 100319475328460017600 100319475328460017600 No Department of Laboratory Sciences, Jondishapour University of Medical Sciences, Faculty of Paramedical Sciences, Ahvaz, Iran Nasim Sohrabifar 100319475328460017601 100319475328460017601 No Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Hossein Jafari 100319475328460017602 100319475328460017602 No Department of Laboratory Sciences, Jondishapour University of Medical Sciences, Faculty of Paramedical Sciences, Ahvaz, Iran.