Genetic Risk Factors of the Autoimmune Diabetes Mellitus, theirSignificance and Function
Genetické rizikové faktory autoimunitného diabetesmellitus, ich význam a funkcia
Autoimunitný diabetes mellitus charakterizuje selektívna deštrukcia β pankreatických buniek celulárnou infiltráciouT (Th1) a B lymfocytmi.Markerom autoimunity je prítomnosť autoprotilátok (ICA, IAA, GADab, IA2ab). Etiológiatohto procesu nie je dodnes úplne vyjasnená. Predpokladá sa však, že na jeho patogenéze sa podieľajú genetickéfaktory a faktory prostredia. Interakcia genetických predispozičných faktorov s faktormi prostredia ovplyvňuje dobuvzniku i progresiu ochorenia. Najdôležitejším genetickým rizikovým faktorom autoimunitného diabetes mellitus súalely HLA II. triedy (DQB1*0302,0201; DRB1*0301,0401; DQA1*0301,0501) a rizikové alely INS-VNTR promótorovejoblasti. V posledných rokoch sa však objavujú práce, v ktorých sa prikladá význam aj iným genetickýmrizikovým faktorom. Sú to hlavne genetické polymorfizmy v génoch niektorých cytokínov (IL-10, IL-12, IL-18)a mikrosatelitový polymorfizmus v géne MHC Class I chain-related gene A (MIC-A).
Klíčová slova:
diabetes mellitus, genetický rizikový faktor, HLA, inzulín, interleukín, MIC-A.
Authors:
P. Novota 2; P. Čejková 1; M. Černá 1; M. Anděl 3
Authors‘ workplace:
CBO – Oddělení buněčné a molekulární biologie 3. LF UK, Praha 2Oddělení imunogenetiky IKEM, Praha 3II. interní klinika 3. LF UK a FNKV, Praha
1
Published in:
Čas. Lék. čes. 2004; : 159-163
Category:
Overview
Autoimmune diabetes mellitus is characterized by selective destruction of β pancreatic cells and by cellularinfiltration 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 thepathogenesis is activated by genetic and environmental factors. Individual predisposition can influence also the onsetand progression of the disease. The most important genetic risk factors of autoimmune diabetes mellitus are the HLAclass II alleles (DQB1*0302, 0201; DRB1*0301, 0401; DQA1*0301, 0501) and the risk alleles of INS-VNTR ofthe 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 themicrosatelite 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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