Association of single nucleotide polymorphisms in the gene encoding GLUT1 and diabetic nephropathy in Brazilian patients with type 1 diabetes mellitus
| Autor: | Marcia Nery, Daniel Giannella-Neto, Marisa Passarelli, Ubiratan Fabres Machado, Arnaldo Moura-Neto, T Marques, Maria Lúcia Corrêa-Giannella, Thiago A. Patente, Maria Beatriz Monteiro, Márcia Silva Queiroz, Maria Candida Ribeiro Parisi, Ana Mercedes Cavaleiro, Luis Henrique Santos Canani, M J de Azevedo |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male medicine.medical_specialty DIABETES MELLITUS (COMPLICAÇÕES) Genotype Clinical Biochemistry Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Biochemistry Diabetic nephropathy Diabetic Neuropathies Internal medicine medicine Humans Gene Glucose Transporter Type 1 Type 1 diabetes Incidence (epidemiology) Biochemistry (medical) Haplotype General Medicine medicine.disease Cross-Sectional Studies Diabetes Mellitus Type 1 Endocrinology Cohort biology.protein Female GLUT1 Brazil |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| ISSN: | 0009-8981 |
| Popis: | Mesangial cells subject to high extracellular glucose concentrations, as occur in hyperglycaemic states, are unable to down regulate glucose influx, resulting in intracellular activation of deleterious biochemical pathways. A high expression of GLUT1 participates in the development of diabetic glomerulopathy. Variants in the gene encoding GLUT1 ( SLC2A1 ) have been associated to this diabetic complication. The aim of this study was to test whether polymorphisms in SLC2A1 confer susceptibility to diabetic nephropathy (DN) in Brazilian type 1 diabetes patients. Four polymorphisms (rs3820589, rs1385129, rs841847 and rs841848) were genotyped in a Brazilian cohort comprised of 452 patients. A prospective analysis was performed in 155 patients. Mean duration of follow-up was 5.6 ± 2.4 years and the incidence of renal events was 18.0%. The rs3820589 presented an inverse association with the prevalence of incipient DN (OR: 0.36, 95% CI: 0.16 – 0.80, p = 0.01) and with progression to renal events (HR: 0.20; 95% CI: 0.03 – 0.70; p = 0.009). AGGT and AGAC haplotypes were associated with the prevalence of incipient DN and the AGAC haplotype was also associated with the prevalence of established/advanced DN. In conclusion, rs3820589 in the SLC2A1 gene modulates the risk to DN in Brazilian patients with inadequate type 1 diabetes control. |
| Databáze: | OpenAIRE |
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