Vitamin D receptor gene (VDR) interaction with Protein tyrosine phosphatase, non-receptor type 2 Gene (PTPN2) in type 1 diabetes mellitus / Eman Ahmed Rashed ; Supervised Dina Mohamed Elabd , Abeer Mohamed Mohy , Mona Mohsen Abdelsalam

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

Diabetes is a global public health problem that has attracted a lot of research for implementation of early diagnosis and proper management (Wang et al., 2019).The majority of cases (70{u2013}90%) are attributable to an autoimmune process (Yahaya and Salisu, 2020). This process entails the destruction of islet beta cells by auto-reactive T-cells (Zhou et al., 2020). Vitamin D receptor (VDR) gene expressionhas been detected in a huge number of body cells. Intracellularly, vitamin D metabolites bind to VDR and exert its genomic effects, including induction of the differentiation of immune cells (Martinez and Badenhoop, 2017).Thus, lower 25(OH)D3 levels as well as specific vitamin D system gene variantsincrease T1DM susceptibility (Martinez and Badenhoop, 2017).Genetic studies have shown PTPN2 be a significant non-MHC gene as regards autoimmunity. Gene variants which decrease PTPN2 expression have been associated with the several autoimmune diseases, including T1DM. The PTPN2 weakens T-cell receptor and cytokine signaling in T cells to sustain peripheral tolerance. However, PTPN2 deficiency in CD8+ T cells has been linked to the destruction of pancreatic beta cells and the onset of T1DM (Wiede et al., 2019)

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