Genetic Risk Factors of the Autoimmune Diabetes Mellitus, their
Significance and Function
1 , 2Novota P., 1Čejková P., 1Černá M., 3Anděl M.
1CBO – Oddělení buněčné a molekulární biologie 3. LF UK, Praha 2Oddělení imunogenetiky IKEM, Praha 3II. interní klinika 3. LF UK a FNKV, Praha |
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Summary:
Autoimmune diabetes mellitus is characterized by selective destruction of β pancreatic cells and by cellular
infiltration with T-(p articularly Th1) and B-lymphocytes. The marker of autoimmunity is the presence of autoantibodies
(ICA, IAA, GADab, IA2ab). Etiology of the autoimmune process is still unknown. It is suggested that the
pathogenesis is activated by genetic and environmental factors. Individual predisposition can influence also the onset
and progression of the disease. The most important genetic risk factors of autoimmune diabetes mellitus are the HLA
class II alleles (DQB1*0302, 0201; DRB1*0301, 0401; DQA1*0301, 0501) and the risk alleles of INS-VNTR of
the promoter region. Recent studies have shown various genetic risk factors for the autoimmune diabetes mellitus.
Individual predispositions belong to the genetic polymorphisms in cytokine genes (IL-10, IL-12, IL-18) and the
microsatelite polymorphism of MHC class I chain-related gene A (MIC-A).
Key words:
diabetes mellitus, genetic risk factor, HLA, insulin, interleukin, MIC-A.
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