A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients

A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients

Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection betw...

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Autores principales: GONZÁLEZ,RODRIGO, TIRADO,ARES, BALANDA,MONSERRAT, ALVO,MIRIAM, BARQUÍN,INÉS, DURRUTY,PILAR, LOBOS,SERGIO, SEELENFREUND,DANIELA
Lenguaje:English
Publicado: Sociedad de Biología de Chile 2007
Materias:
GAGA box
gene promoter
nephrin
polymorphism
Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010
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spelling oai:scielo:S0716-976020070004000102008-04-21A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patientsGONZÁLEZ,RODRIGOTIRADO,ARESBALANDA,MONSERRATALVO,MIRIAMBARQUÍN,INÉSDURRUTY,PILARLOBOS,SERGIOSEELENFREUND,DANIELA GAGA box gene promoter nephrin polymorphism Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controlsinfo:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.40 n.3 20072007-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010en10.4067/S0716-97602007000400010
institution Scielo Chile
collection Scielo Chile
language English
topic GAGA box
gene promoter
nephrin
polymorphism
spellingShingle GAGA box
gene promoter
nephrin
polymorphism
GONZÁLEZ,RODRIGO
TIRADO,ARES
BALANDA,MONSERRAT
ALVO,MIRIAM
BARQUÍN,INÉS
DURRUTY,PILAR
LOBOS,SERGIO
SEELENFREUND,DANIELA
A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
description Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controls
author GONZÁLEZ,RODRIGO
TIRADO,ARES
BALANDA,MONSERRAT
ALVO,MIRIAM
BARQUÍN,INÉS
DURRUTY,PILAR
LOBOS,SERGIO
SEELENFREUND,DANIELA
author_facet GONZÁLEZ,RODRIGO
TIRADO,ARES
BALANDA,MONSERRAT
ALVO,MIRIAM
BARQUÍN,INÉS
DURRUTY,PILAR
LOBOS,SERGIO
SEELENFREUND,DANIELA
author_sort GONZÁLEZ,RODRIGO
title A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
title_short A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
title_full A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
title_fullStr A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
title_full_unstemmed A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
title_sort pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
publisher Sociedad de Biología de Chile
publishDate 2007
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010
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