Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: a preliminary study

background: the aim of the study was to evaluate an association between the c49620t abcc8 gene polymorphism and anthropometric, biochemical parameters, pancreatic β-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 ldl-cholesterol 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±35.2mg/dl, p=0.05, respectively), as well as higher area under curve of glucose concentrations (115.9±23.9 vs 102.7± 25.2mmol*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 β 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 β-cell secretory function or insulin sensitivity.