Dataset Information

Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy.

ABSTRACT: PURPOSE: 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 disease duration 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. METHODS: We selected 64 patients who had diabetes for at least 10 years from Santa Casa de São Paulo and State University of Campinas. The study group was divided into the following: Group 1, patients with no evidence of diabetic retinopathy; group 2, patients with nonproliferative diabetic retinopathy (NPDR); and group 3, patients with proliferative diabetic retinopathy (PDR), confirmed by fundoscopy. The AC(n) microsatellite region was evaluated through polymerase chain reaction (PCR) and automated genotyping and the C(-106)T substitution through polymerase chain reaction/restriction fragment length polymorphism (RFLP). RESULTS: When each allele of the AC(n) polymorphism was evaluated, the Z allele (24 repeats) was significantly associated with the development of PDR (p=0.014). The C allele of the C(-106)T substitution wasn't associated with the susceptibility to this microvascular complication (p=0.153). When the Z and C allele were concomitantly evaluated regarding their presence or absence a positive correlation was observed for the presence of both alleles and the development of PDR. CONCLUSIONS: In our sample of Brazilian patients with type 1 diabetes, the presence of the AC(n) polymorphism Z allele may be considered a risk factor for the development of PDR. The C allele of the C(-106)T polymorphism, in association with the Z allele, also increased the risk for the development of PDR, but when it was analyzed by itself there was no association with the complication.

SUBMITTER: Richeti F

PROVIDER: S-EPMC2765471 | biostudies-literature | 2007

REPOSITORIES: biostudies-literature

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Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy.

Richeti Flávio F Noronha Renata Maria RM Waetge Ricardo Temudo Lessa RT de Vasconcellos José Paulo Cabral JP de Souza Osías Francisco OF Kneipp Bianca B Assis Nilma N Rocha Mylene Neves MN Calliari Luís Eduardo Procópio LE Longui Carlos Alberto CA Monte Osmar O de Melo Monica Barbosa MB

Molecular vision 20070523

<h4>Purpose</h4>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 disease duration 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 ...[more]

PMID: 17563730

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Project description:Diabetic retinopathy (DR) is one of the most severe microvascular complications of diabetes mellitus (DM). The (CA)n microsatellite variation of the aldose reductase (ALR) gene has been indicated to be associated with DR in previous studies; however, the results were inconclusive. To provide a more precise evaluation of the association between the (CA)n variations of ALR and the risk for DR, a meta-analysis was performed in the present study. Relevant articles were retrieved from the PubMed, Embase, Chinese National Knowledge Infrastructure and Cochrane Library databases. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the strength of the associations. The present meta-analysis included 17 studies comprising 1,575 DM patients with retinopathy and 1,741 DM patients without retinopathy. The results indicated that the Z-2 allele was a risk factor for DR in Asian (OR=1.82, 95% CI: 1.16-2.86, P=0.009) and Caucasian (OR=2.08, 95% CI: 1.14-3.79, P=0.02) populations, as well as in type 1 diabetes (T1D; OR=3.42, 95% CI: 1.46-8.04, P=0.005) and type 2 diabetes (T2D; OR=1.66, 95% CI: 1.05-2.63, P=0.03). Furthermore, the Z+2 allele was determined to be a protective factor for DR in Caucasian individuals (OR=0.50, 95% CI: 0.34-0.73, P=0.0004) and those with T1D (OR=0.39, 95% CI: 0.27-0.57, P<0.00001). Z+4 was also identified to be a protective factor, reducing the risk of DR in patients with T1D (OR=0.74, 95% CI: 0.57-0.96, P=0.02). Z-4 was revealed to be a risk factor for DR in Asian populations (OR=1.57, 95% CI: 1.22-2.03, P=0.0005) and in individuals with T1D (OR=1.62, 95% CI: 1.27-2.08, P=0.0001). However, no association was detected between the Z, Z+6 and Z-6 alleles and the risk of DR (P>0.05). In conclusion, the present results revealed the following: Z+2 may serve as a protective factor for DR in Caucasian individuals and those with T1D; Z+4 may be a protective factor for DR in patients with T2D; Z-2 may represent a risk factor for DR in all subgroups analyzed; and Z-4 may be a risk factor for DR in Asian populations and patients with T2D.

Dataset Information

Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy.

Publications

Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy.

Similar Datasets

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