Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Type 2 diabetes is a complex trait with both environmental and hereditary factors contributing to the overall pathogenesis. One link between genes, environment, and disease is epigenetics influencing gene transcription and, consequently, organ function. Genome-wide studies have shown altered DNA methylation in tissues important for glucose homeostasis including pancreas, liver, skeletal muscle, and adipose tissue from subjects with type 2 diabetes compared with nondiabetic controls. Factors predisposing for type 2 diabetes including an adverse intrauterine environment, increasing age, overweight, physical inactivity, a family history of the disease, and an unhealthy diet have all shown to affect the DNA methylation pattern in target tissues for insulin resistance in humans. Epigenetics including DNA methylation may therefore improve our understanding of the type 2 diabetes pathogenesis, contribute to development of novel treatments, and be a useful tool to identify individuals at risk for developing the disease. This present study aimed to evaluate IGFBP1 gene methylation levels in peripheral blood of 100 subjects (50 T2DM patients versus 50 healthy controls) and to explore the role of IGFBP1 gene methylation in contribution to individual risk of T2D, using bisulfite pyrosequencing technique to identify IGFBP-1 gene methylation that may be involved in T2DM pathogenesis and prediction of the disease. Methylation of IGFBP-1 gene in T2DM group at each of the six CpG (P%) sites were statistically significant lower than the control group

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