Avaliação clinico-laboratorial e estudo da associação entre dois polimorfismos na região promotora do gene VEGF em pacientes diabeticos tipo 1 com e sem retinopatia diabetica proliferativa / Diabetes Mellitus Type 1, proliferative diabetic retinopathy, vascular endothelial growth factor, single nucleotide polymorphisms

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

Diabetic retinopathy is a frequent complication of diabetes mellitus type 1 and almost all patients develop it after twenty years of disease. The causes of these complications are not clear, but several environmental factors such as chronic hyperglicaemia may act in this predisposition, however, it is not clearly understood why some individuals develop it in a severe and precocious way. The participation of genetic factors as the vascular endothelial growth factor (VEGF), a potent angiogenic mediator, was already confirmed for some authors. In this study we investigate whether polymorphisms in VEGF gene are associated with proliferative diabetic retinopathy. One hundred-fourteen patients with diabetes mellitus type 1 underwent a clinical and laboratorial study, as well as the analysis of two polymorphisms: rs833061 and the deletion of 18 bp at -2549 both on the promoter region of the VEGF gene. There was an association between nephropathy and retinopathy in our patients but none of the individuals presented the deletion at -2549 or the allele C in rs833061 in homozygous state. These results suggest that such polymorphisms in the promoter region of the VEGF gene do not interfere in the predisposition to diabetic retinopathy in our population and that other environmental and/or genetic factor may be more relevant

ASSUNTO(S)

diabetic retinopathy retinopatia diabetica polymorphisms (genetic) diabetes mellitus type 1 diabetes mellitus tipo 1 polimorfismo (genetica)

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