Association of genetic polymorphisms and autoimmune Addison's disease.
作者： Alberto Falorni , Annalisa Brozzetti , Daria La Torre , Cristina Tortoioli , Giovanni Gambelunghe
关键词: PTPN22 、 Genetics 、 MHC class I 、 Human leukocyte antigen 、 Autoantibody 、 Major histocompatibility complex 、 Immunology 、 Allele 、 Autoimmune polyendocrine syndrome 、 Biology 、 CTLA-4
摘要: Autoimmune Addison's disease (AAD) is a complex genetic that results from the interaction of predisposing background with as yet unknown environmental factors. The marked by appearance circulating autoantibodies against steroid 21-hydroxylase. Mutations autoimmune regulator gene are responsible for so-called polyendocrine syndrome type I (APS I), which AAD major component. Among factors isolated and APS II, role played HLA class II genes: HLA-DRB1 0301-DQA1 0501-DQB1 0201 DRB1 04-DQA1 0301-DQB1 0302 positively, RB1 0403 negatively, associated risk AAD. MHC chain-related A allele 5.1 strongly positively Other polymorphisms contributing to MHC2TA, coding transactivator, master expression, cytotoxic T lymphocyte antigen-4, PTPN22 vitamin D receptor.
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