Functional genetics of type 1 diabetes: between genes and disease

Jong, V.M. de (2018)

Doctoral Thesis

Identification of the cellular mechanisms involved in the occurrence and persistence of
autoreactive lymphocytes is key for understanding T1D etiology. Comparing autoreactive
T lymphocytes from healthy individuals and T1D patients can provide clues as to what
the driving force is for the destruction of β-cells and might designate potential targets
for (immune) intervention. Elucidating in what way T1D associated gene variants actually
contribute to disease development, i.e. understanding the functional aspects of genetic
risk, and how genetic control of autoantigens influences autoimmunity may provide crucial
clues to the clarification of the enigma of T1D. This thesis aims to answer several of these
issues by investigating the role of transcriptional and post-transcriptional gene control
in T1D.

• Autoimmunity
• Genetic risk
• T lymphocytes
• Type 1 Diabetes
• MicroRNA

• All authors: Jong, V.M. de
• Supervisor: Roep, B.O.
• Co-supervisor: Koeleman, B.P.C.; Zaldumbide, A.
• Committee: Zwaginga, J.J.; Elsen, P.J. van den; Kooten, C. van; Mathieu, C.; Aanstoot, H.J.; Nikolic, T.
• Qualification: Doctor (dr.)
• Awarding Institution: Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2018-01-17
• ISBN (print): 9789461828675
• Sponsorship: Alrijne Zorggroep Novo Nordisk B.V.