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

• Published in: Biological research Vol. 42; no. 2; pp. 189 - 198
• Main Authors: GONZÁLEZ, RODRIGO, TIRADO, ARES, ROJAS, LUIS A, OSSANDÓN, FRANCISCO J, ALVO, MIRIAM, WOLFF, CARLOS, SEELENFREUND, DANIELA, DURRUTY, PILAR, LOBOS, SERGIO
• Format: Journal Article
• Language: English
• Published: England Sociedad de Biología de Chile 2009; BMC
• Subjects: Adult; Aged; BIOLOGY; Biopsy; Case-Control Studies; Diabetes Mellitus, Type 1 - complications; Diabetes Mellitus, Type 2 - complications; Diabetic Nephropathies - genetics; diabetic nephropathy; Female; Genotype; Humans; Introns - genetics; Male; Membrane Proteins - genetics; Middle Aged; Multivariate Analysis; NPHS1; polymorphism; Polymorphism, Single Nucleotide - genetics; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing - genetics; splicing enhancer; Transcription, Genetic - genetics; polymorphism; NPHS1; splicing enhancer; diabetic nephropathy
• ISSN: 0716-9760; 0717-6287; 0716-9760; 0717-6287
• DOI: 10.4067/S0716-97602009000200007

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 multivariate 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.