|
|
Genetic risk factors of system autoimmune diseases
Bičíková, Adéla ; Daňková, Pavlína (advisor) ; Novota, Peter (referee)
One of the characteristics of systemic autoimmune diseases is the production of autoantibodies against self antigens. Genetic predisposition is supported by the HLA class II DQB and DRB genes, which constitute only about 40% of the risk. In the last few decades the search of other genetic risk factors noted major progress. There are many genetic risk factors that are shared by systemic disorders. These include genes such as PTPN22, STAT4, IRF5, TNFAIP3, TNFSF4, BANK1, BLK, CTLA4, genes coding for Fcγ receptors, FAS and others. Their presence suggests the existence of identical or similar mechanisms involved in the pathogenesis of autoimmune diseases. Conversely, many genetic factors predisposing to the development of the disease are specific to single system disorders. These genes often encode proteins involved in the functioning of the immune system, whether they are genes whose function has resulted in production of autoantigens (PADI4 and TREX1), or are responsible for the failure in selection of autoreactive T cells in the thymus (PTPN22), for antigen presentation to CD4+ T cells or cause the activation of autoreactive B cells (BANK1, IRF5, BLK).
|
guest ::
