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Background: Diabetes Mellitus is defined as systemic, heterogeneous chronic degenerative disease, with varying degrees of hereditary predisposition involvement and the contribution of various environmental factors. Currently there are studies of gene-disease association where individual polymorphisms of genes involved are searched in the pathogenesis of this disease by determining whether there is any relationship with it. Objective: Determine the Association of polymorphisms of PPARG (rs1805192), KCNJ11 (rs5219), and TCF7L2 (rs7901695) with metabolic phenotype of patients diagnosed with type 2 diabetes (T2D). Material and method: We analized a total of 91 patients with DM2 and 119 healthy patients with no family history of inherited DM2. Biochemical data taken into account from each patient were: glucose, glycosylated hemoglobin, total cholesterol, HDL, LDL and triglycerides. Regions of PPARG, KCNJ11 and TCF7L2 genes were analyzed by the technique allelic discrimination real-time PCR. Results: rs1805192 polymorphism of the PPARg gene was not found present in a sample of the population studied in the Unit of Medical Specialties. Conclusion: Considering the objectives of this study and based on our results so far variants of polymorphisms found in KCNJ11 and TCF7L2 genes cannot be used as prognostic markers to develop DM2 in our population, although a significant association of these polymorphisms is demonstrated plasma glucose levels and glycosylated hemoglobin, we consider to conduct further studies with a larger sample size. [ABSTRACT FROM AUTHOR]

Background: Diabetes mellitus has become a major public health problem due to the high costs of treatment and prevention complications. This disease is the most common cause of blindness, end-stage renal failure, non-traumatic amputations and premature disability, in Mexico and in most countries. Most of the chronic and degenerative diseases result from the interaction of genetic and environmental factors. The individual has the predisposition for the disease when his eating habits are modified to increase the consumption of simple sugars and fats. Objective: Identify the type SNP variants in the exome of 100 genes in individuals with DM2 and individuals not affected by the disease attending the Unit of Medical Specialties. Material and methods: We analyzed a total of 25 patients with type 2 diabetes and 25 healthy patients without a family history of DM2. The regions of the 100 genes analyzed were captured by SureSelect DNA Standard Design Wizard software of company Agilent Technologies and were analyzed using pyrosequencing technique with the 454 GS Junior platform enrichment with sure select kit. Results: 536 variants which passed the filters for the analyzed samples are reported, and within a missense mtch2 gene variant on chromosome 11, the gene is closely related to obesity as reported in the literature. Other variants have the same behavior according to the targeted capture made with the protocol adapted from "sure select". 24 exclusive snp's were obtained in diabetic individuals, 4 mutations also not yet are reported as SNP databases., the results are encouraging so we consider to conduct further studies with larger sample size to substantiate the preliminary findings presented in present pilot study. Conclusion: To corroborate the findings of this study is necessary to undertake another with a more representative sample size. [ABSTRACT FROM AUTHOR]

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