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Functional Genetics for Predisposition to Development of Type 2 Diabetes in Obese Individuals

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Technical Report,15 Apr 2017,14 Apr 2018

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Wayne State University Detroit United States

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T2D frequently occurs together with obesity. In fact, the vast majorities of T2D individuals from both civilian and Veteran populations are or have been overweight or obese. Surprisingly, the majority of the obese subjects, both Veterans and non-veterans, will never develop T2D and their metabolic tissues will never lose the ability to respond to insulin. This fact indicates the critical role of the genetic predisposition to T2D development in obesity. The proposal assesses for the first time if pathogenic single nucleotide variations SNVs within three genes, i.e., PIKFYVE, FIG4 andor VAC14, found previously to be involved in glucose homeostasis, are linked with T2D development in obese individuals. The expected changes will be related to functional differences in the performance of the PIKfyve enzymatic activity. A total of 96 obese patients with or without T2D DM and non-DM, 48 per group, with similar average BMI and age have been selected and included in the analyses. Fat tissue for analyses has been collected and the DNA was isolated. Samples were subjected to next-generation exome sequencing. Several promising SNVs in the three genes, with p 0.05, associated specifically with T2D in the obese individuals have been already identified. Determining their position within the gene and the potential functional outcome is currently in progress.

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  • Medicine and Medical Research

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