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

González R.; Tirado, A; Balanda, M; Alvo M; Barquin, I; Durruty, P; Lobos S.; Seelenfreund, D

Abstract

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

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Título según WOS: A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
Título según SCOPUS: A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
Título según SCIELO: A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
Título de la Revista: BIOLOGICAL RESEARCH
Volumen: 40
Número: 3
Editorial: Springer Nature
Fecha de publicación: 2007
Página de inicio: 357
Página final: 364
Idioma: English
DOI:

10.4067/S0716-97602007000400010

Notas: ISI, SCIELO, SCOPUS