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        "resumen" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Background&#58; </span>The aim of the study was to evaluate an association between the C49620T <span class="elsevierStyleItalic">ABCC8 </span>gene polymorphism and anthropometric&#44; biochemical parameters&#44; pancreatic &#946;-cell function and insulin sensitivity among autosomal dominant polycystic kidney disease &#40;ADPKD&#41; patients&#46;&#160;<span class="elsevierStyleBold">Methods&#58;</span>&#160;Forty-nine ADPKD patients &#40;M&#47;F&#58; 19&#47;30&#41; and fifty healthy controls &#40;M&#47;F&#58; 22&#47;28&#41; aged above 18 years&#44; with normal kidney function and no diagnosis of diabetes&#44; were enrolled into the study&#46; The <span class="elsevierStyleItalic">ABCC8</span> &#40;<span class="elsevierStyleItalic">SUR1</span>&#41; C49620T &#40;IVS15-3C&#47;T&#44; rs1799854&#41; genotypes were determined using a PCR-RFLP technique&#46;&#160;<span class="elsevierStyleBold">Results&#58; </span>In the ADPKD group among TT homozygous patients&#44; total body fat content and percentage of fat in body weight were significantly lower than among C allele carriers &#40;16&#46;1&#177;7&#46;7 vs 22&#46;9&#177;7&#46;1kg&#44; p&#61;0&#46;04 and 22&#46;8&#177;6&#46;5 vs 30&#46;0&#177;6&#46;1&#37;&#44; p&#61;0&#46;001&#44; respectively&#41; while total body water was higher &#40;58&#46;4&#177;4&#46;3 vs 53&#46;7&#177;4&#46;0kg&#44; p&#61;0&#46;003&#41;&#46; Among TT homozygous controls higher BMI values and LDL-cholesterol levels were observed if compared to C variant carriers &#40;26&#46;3&#177;3&#46;9 vs 23&#46;8&#177;3&#46;4kg&#47;m<span class="elsevierStyleSup">2</span> p&#61;0&#46;04 and 133&#46;1&#177;27&#46;0 vs 114&#46;3&#177;35&#46;2mg&#47;dL&#44; p&#61;0&#46;05&#44; respectively&#41;&#44; as well as higher area under curve of glucose concentrations &#40;115&#46;9&#177;23&#46;9 vs 102&#46;7&#177; 25&#46;2mmol&#42;h&#47;L&#44; p&#61;0&#46;046&#41; during an oral glucose tolerance test&#46; In the ADPKD group and among controls no association between the investigated polymorphism and secretory function of the pancreatic&#160;&#946; cells or insulin sensitivity was found&#46;&#160;<span class="elsevierStyleBold">Conclusion&#58; </span>The C49620T <span class="elsevierStyleItalic">ABCC8 </span>polymorphism is associated with anthropometric risk factors for type 2 diabetes among ADPKD patients&#44; with a protective effect of the TT genotype&#44; but without influence on pancreatic &#946;-cell secretory function or insulin sensitivity&#46;</p>"
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Vol. 32. Núm. 2.marzo 2012
Páginas 0-274
Vol. 32. Núm. 2.marzo 2012
Páginas 0-274
Acceso a texto completo
Asociación del polimorfismo C49620T ABCC8 con parámetros antropométricos y metabólicos en pacientes con enfermedad poliquística renal autosómica dominante: un estudio preliminar
Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: a preliminary study
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Maria Pietrzak-Nowackaa, Krzysztof Safranowb, Agnieszka Binczak-Kuletac, Jacek Rozanskia, Kazimierz Ciechanowskia, Andrzej Ciechanowiczc
a Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland,
b Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland,
c Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland,
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Antecedentes: El objetivo del estudio fue evaluar la asociación entre el polimorfismo del gen C49620T ABCC8 y los parámetros antropométricos, bioquímicos, la función pancreática β-celular y la sensibilidad a la insulina entre los pacientes con enfermedad poliquística renal autosómica dominante (EPRAD). Métodos: Se incluyeron en el estudio 49 pacientes EPRAD (M/F: 19/30) y 50 controles sanos (M/F: 22/28) mayores de 18 años, con una función renal normal y sin diagnóstico de diabetes. Los genotipos ABCC8 (SUR1) C49620T (IVS15-3C/T, rs1799854) se determinaron utilizando una técnica de PCR-RFLP. Resultados: En el grupo de EPRAD entre los pacientes homocigotos TT, el contenido total de grasa corporal y el porcentaje de grasa en el peso corporal fue significativamente menor que entre los portadores del alelo C (16,1 ± 7,7 vs. 22,9 ± 7,1 kg, p = 0,04 y 22,8 ± 6,5 vs. 30,0 ± 6,1%, p = 0,001, respectivamente), mientras que el agua corporal total fue mayor (58,4 ± 4,3 vs. 53,7 ± 4,0 kg, p = 0,003). Entre los controles homocigotos TT se observaron mayores valores de índice de masa corporal y de colesterol LDL en comparación con los portadores de la variante C (26,3 ± 3,9 vs. 23,8 ± 3,4 kg/m2, p = 0,04 y 133,1 ± 27,0 vs. 114,3 ± 35,2 mg/dl, p = 0,05, respectivamente), así como mayor área bajo la curva de las concentración de glucosa (115,9 ± 23,9 vs. 102,7 ± 25,2 mmol * h/l, p = 0,046) durante una prueba de tolerancia a la glucosa oral. En el grupo de EPRAD y en los controles no se encontró asociación entre el polimorfismo investigado y la función secretora de las células pancreáticas β o sensibilidad a la insulina. Conclusión: El polimorfismo C49620T ABCC8 se asocia con factores de riesgo antropométricos para la diabetes tipo 2 entre los pacientes con EPRAD, con un efecto protector del genotipo TT, pero sin influencia en la función secretora de las células β del páncreas o en la sensibilidad a la insulina.

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.

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