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M.B. Melo, F. Richeti, R.M. Noronha, R.T. L. Waetge, L.P. Calliari, O.F. Souza, B. Kneipp, M.N. Rocha, C.A. Longui, J.P. C. Vasconcellos; AC(n) and C(–106)T Polymorphims of the Aldose Reductase Gene and Susceptibility to Diabetic Retinopathy in Brazilian Patients With Type 1 Diabetes Mellitus . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3281.
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Diabetic retinopathy (DR) is one of the most important microvascular complications in both type 1 and type 2 diabetes. In Brazil, its proliferative form is the second cause of irreversible blindness among adults of working age. Despite the strong association of DR with duration of the disease and degree of chronic hyperglycemia, genetic predisposition has been recognized as a possible trigger in the development of this complication. Recent studies have demonstrated that the development of DR in patients with type 1 diabetes is associated with the occurrence of polymorphisms at the 5’–end of the aldose reductase gene (ALR2). There are no reports investigating these polymorphisms in type 1 diabetes Brazilian patients. The aim of this study was to investigate the relationship between the AC(n) repeat and C(–106)T polymorphisms of the ALR2 gene with the susceptibility to the development of DR in Brazilian patients with type 1 diabetes.
Sixty four patients with at least 10 years of duration of diabetes, from Santa Casa de São Paulo and State University of Campinas, were selected consecutively. The study group was divided into: group 1, 33 patients with no evidence of diabetic retinopathy, group 2, 16 patients with non–proliferative diabetic retinopathy (NPDR) and group 3, 15 patients with proliferative diabetic retinopathy (PDR), confirmed by fundoscopy. The AC(n) microsatellite region was evaluated through PCR and automated genotyping and the C(–106)T substitution through PCR/RFLP.
When each allele of the AC(n) polymorphism was evaluated, the Z allele (24 repeats) was significantly associated with the development of PDR (p=0.002). The C allele of the C(–106)T substitution, was also associated with susceptibility to this microvascular complication (p=0.024).
In our sample of Brazilian patients with type 1 diabetes, the presence of the AC(n) Z allele as well as the C allele of the C(–106)T polymorphism may be considered as risk factor for the development of DR.
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