title: A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients.
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.
authors.affiliation: Laboratorio de Bioquímica, Departamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, Chile.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: González
authors.forename: Ares
authors.initials: A
authors.lastname: Tirado
authors.forename: Monserrat
authors.initials: M
authors.lastname: Balanda
authors.forename: Miriam
authors.initials: M
authors.lastname: Alvo
authors.forename: Inés
authors.initials: I
authors.lastname: Barquín
authors.forename: Pilar
authors.initials: P
authors.lastname: Durruty
authors.forename: Sergio
authors.initials: S
authors.lastname: Lobos
authors.forename: Daniela
authors.initials: D
authors.lastname: Seelenfreund
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010865:Pilot Projects; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D008565:Membrane Proteins; C113267:nephrin