A novel polymorphism in the aldose reductase gene promoter region is strongly associated with diabetic retinopathy in adolescents with type 1 diabetes.

Abstract

dinucleotide repeat sequence –2.1 kbupstream of the transcription start site of thealdose reductase gene has been found to bestrongly associated with human diabeticnephropathy and retinopathy (1,2) and linked to increasedexpression of the aldose reductase gene (3). The current pro-ject was designed to detect potential variants in the putativepromoter and encoding regions and to determine their poten-tial association with early diabetic retinopathy in adoles-cents with type 1 diabetes. A novel polymorphism in the pro-moter region of the aldose reductase gene was identifie d ,which was located at C(–106)T. The frequencies of homozy-gote CC and C alleles were significantly higher in those withretinopathy compared with those without retinopathy (