The role of the AKT1 gene in the pathogenesis of type 2 diabetes mellitus and its complications

Abstract

Introduction. Type 2 diabetes (T2D) is a chronic metabolic disorder. The number of diabetic people is increasing. AKT1 is a protein kinase and a participant in the PI3K/AKT/mTOR signaling pathway. The aim of the study was to analyze the association of polymorphic variants rs3803300 and rs2494732 of the AKT1 gene with the risk of developing type 2 diabetes and its complications. Methods. PCR-RFLP analysis was used to study polymorphic variants of two polymorphic loci of the AKT1 gene. DNA samples of 533 patients with T2D and 397 individuals of the control group were used in the work. Results. The association of the rs3803300 locus of the AKT1 gene with the risk of developing T2D, the effect allele T (р=0.02), and the risk genotypes of CT-CC of the rs2494732 locus of the AKT1 gene (р=0.042) were revealed. It was shown that carriers of the CT-CC genotypes of the rs2494732 locus of the AKT1 gene had an increased weight (р=0.026). An association of the rs3803300 locus of the AKT1 gene with the risk of developing diabetic retinopathy (р=0.021), polyneuropathy (р=0.0084), coronary heart disease (р=0.032) and diabetic encephalopathy (р=0.0064) was found. The rs2494732 locus of the AKT1 gene is associated with the development of diabetic nephropathy (р=0.024). Conclusion. The data obtained indicate the prospects of analyzing the PI3K/AKT/mTOR signaling pathway genes for the search for personalized predictors of T2D and its complications.