Abstract
Diabetes Mellitus has a high prevalence in Uruguay and around the world. It presents different and complex clinical characteristics and very frequently diagnosis is a challenge for treating physicians. In previous works we described an atypical diabetic population showing genetic variations as HLA and non-HLA related to type 1 diabetes, presenting also type 2 diabetes clinical features. In the present work we studied variations in four genes (IRS-1, PPAR-γ2, ENPP-1 and UCP-2) associated with obesity and diabetes.We studied 155 patients from two healthcare centers in Montevideo, Uruguay. We divided them into two populations as per type 2 diabetes criterion (84 patients) and atypical diabetes criterion (71 patients). We analyzed SNPs rs1801278, rs1801282, rs1044498 and rs659366 in genes IRS-1, PPAR-γ2, ENPP-1 and UCP-2, respectively.Significant differences in SNP, IRS-1 and UCP-2 were found. No significant polymorphism variations were found in PPAR-γ2 and ENPP-1.Our results would be in accordance with the evidence regarding the lack of correlation between genotype and phenotype in atypical diabetes patients, as there are differences in some of the susceptibility and protective variants for obesity and diabetes in genes involved in insulin resistance and faulty beta cells.On the other hand, other variants would be partaken by both populations, determining the phenotypic characteristics they have in common. Genetic studies could serve not only for the identification of this type of patients but also to optimize their treatment.
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