%0 Journal Article
%T Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: a preliminary study
%A Pietrzak-Nowacka
%A Maria
%A Safranow
%A Krzysztof
%A Binczak-Kuleta
%A Agnieszka
%A Rozanski
%A Jacek
%A Ciechanowski
%A Kazimierz
%A Ciechanowicz
%A Andrzej
%J Nefrolog¨ªa (Madrid)
%D 2012
%I Scientific Electronic Library Online
%X background: the aim of the study was to evaluate an 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¡À7.7 vs 22.9¡À7.1kg, p=0.04 and 22.8¡À6.5 vs 30.0¡À6.1%, p=0.001, respectively) while total body water was higher (58.4¡À4.3 vs 53.7¡À4.0kg, p=0.003). among tt homozygous controls higher bmi values and ldl-cholesterol levels were observed if compared to c variant carriers (26.3¡À3.9 vs 23.8¡À3.4kg/m2 p=0.04 and 133.1¡À27.0 vs 114.3¡À35.2mg/dl, p=0.05, respectively), as well as higher area under curve of glucose concentrations (115.9¡À23.9 vs 102.7¡À 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 ¦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.
%K abcc8
%K adpkd
%K genetic polymorphism
%K insulin sensitivity
%K obesity
%K pancreatic beta-cell secretory function.
%U http://scielo.isciii.es/scielo.php?script=sci_abstract&pid=S0211-69952012000200005&lng=en&nrm=iso&tlng=en