Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients...

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Autores principales:	GONZÁLEZ,RODRIGO, TIRADO,ARES, ROJAS,LUIS A, OSSANDÓN,FRANCISCO J, ALVO,MIRIAM, WOLFF,CARLOS, SEELENFREUND,DANIELA, DURRUTY,PILAR, LOBOS,SERGIO
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2009
Materias:	diabetic nephropathy NPHS1 polymorphism splicing enhancer
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007
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spelling	oai:scielo:S0716-976020090002000072009-10-09Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathyGONZÁLEZ,RODRIGOTIRADO,ARESROJAS,LUIS AOSSANDÓN,FRANCISCO JALVO,MIRIAMWOLFF,CARLOSSEELENFREUND,DANIELADURRUTY,PILARLOBOS,SERGIO diabetic nephropathy NPHS1 polymorphism splicing enhancer We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.42 n.2 20092009-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007en10.4067/S0716-97602009000200007
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	diabetic nephropathy NPHS1 polymorphism splicing enhancer
spellingShingle	diabetic nephropathy NPHS1 polymorphism splicing enhancer GONZÁLEZ,RODRIGO TIRADO,ARES ROJAS,LUIS A OSSANDÓN,FRANCISCO J ALVO,MIRIAM WOLFF,CARLOS SEELENFREUND,DANIELA DURRUTY,PILAR LOBOS,SERGIO Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
description	We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.
author	GONZÁLEZ,RODRIGO TIRADO,ARES ROJAS,LUIS A OSSANDÓN,FRANCISCO J ALVO,MIRIAM WOLFF,CARLOS SEELENFREUND,DANIELA DURRUTY,PILAR LOBOS,SERGIO
author_facet	GONZÁLEZ,RODRIGO TIRADO,ARES ROJAS,LUIS A OSSANDÓN,FRANCISCO J ALVO,MIRIAM WOLFF,CARLOS SEELENFREUND,DANIELA DURRUTY,PILAR LOBOS,SERGIO
author_sort	GONZÁLEZ,RODRIGO
title	Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
title_short	Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
title_full	Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
title_fullStr	Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
title_full_unstemmed	Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
title_sort	analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
publisher	Sociedad de Biología de Chile
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007
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Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

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