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

• RODRIGO GONZÁLEZ ^[1] ; ARES TIRADO ^[1] ; LUIS A ROJAS ^[1] ; FRANCISCO J OSSANDÓN ^[1] ; MIRIAM ALVO ^[1] ; CARLOS WOLFF ^[1] ; DANIELA SEELENFREUND ^[1] ; PILAR DURRUTY ^[1] ; SERGIO LOBOS ^[1]
  1. [1] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
• Localización: Biological Research, ISSN-e 0717-6287, ISSN 0716-9760, Vol. 42, Nº. 2, 2009, págs. 189-198
• Idioma: inglés
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• Resumen

  • 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.