Data/hora: 07/06/2024 02:54:52

Provedor de dados: | 48
País: | Chile
Título: | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
Autores: | GONZÁLEZ,RODRIGO; TIRADO,ARES; ROJAS,LUIS A; OSSANDÓN,FRANCISCO J; ALVO,MIRIAM; WOLFF,CARLOS; SEELENFREUND,DANIELA; DURRUTY,PILAR; LOBOS,SERGIO.
Data: | 2009-01-01
Ano: | 2009
Palavras-chave: | Diabetic nephropathy; NPHS1; Polymorphism; Splicing enhancer.
Resumo: | 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.
Tipo: | Journal article
Idioma: | Inglês
Identificador: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007
Editor: | Sociedad de Biología de Chile
Formato: | text/html
Fonte: | Biological Research  v.42 n.2 2009