Resumen de Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: A preliminary study
María Pietrzak-Nowacka, Krzysztof Safranow, Agnieszka Binczak-Kuleta, Jacek Rózanski, Kazimierz Ciechanowski, Andrzej Ciechanowicz
Background: The aim of the study was to evaluate association between the C49620T ABCC8 gene polymorphism and anthropometric, biochemical parameters, pancreatic â-cell function and insulin sensitivity among autosomal dominant polycystic kidney disease (ADPKD) patients. Methods: Forty-nine ADPKD patients (M/F: 19/30) and fifty healthy controls (M/F:
22/28) aged above 18 years, with normal kidney function and no diagnosis of diabetes, were enrolled into the study. The ABCC8 (SUR1) C49620T (IVS15-3C/T, rs1799854) genotypes were determined using a PCR-RFLP technique.
Results: In the ADPKD group among TT homozygous patients, total body fat content and percentage of fat in body weight were significantly lower than among C allele carriers (16.1±7.7 vs 22.9±7.1kg, p=0.04 and 22.8±6.5 vs 30.0±6.1%, p=0.001, respectively) while total body water was higher (58.4±4.3 vs 53.7±4.0kg, p=0.003). Among TT homozygous controls higher BMI values and LDLcholesterol levels were observed if compared to C variant carriers (26.3±3.9 vs 23.8±3.4kg/m2, p=0.04 and 133.1±27.0 vs 114.3±35.2 mg/dL, p=0.05, respectively), as well as higher area under curve of glucose concentrations (115.9±23.9 vs 102.7± 25.2 mmol*h/L, p=0.046) during an oral glucose tolerance test. In the ADPKD group and among controls no association between the investigated polymorphism and secretory function of the pancreatic â- cells or insulin sensitivity was found. Conclusion: The C49620T ABCC8 polymorphism is associated with anthropometric risk factors for type 2 diabetes among ADPKD patients, with a protective effect of the TT genotype, but without influence on pancreatic â-cell secretory function or insulin sensitivity.
