Genetic and epigenetic factors in etiopathology of AITD: molecular and clinical implications
Journal Title: Postępy Nauk Medycznych - Year 2011, Vol 24, Issue 11
Abstract
Autoimmune thyroid diseases (AITDs) are caused by interactions between many genes, environmental factors as well as epigenetic modifications. In present review we focus on genetic background of AITD, mainly on genetic predisposition in hyperthyroid Graves’ disease (GD) and Hashimoto’s (goitrous) thyroiditis, including genes affecting the immune response, mainly genes coding human leukocyte antigens (HLA), cytotoxic T-lymphocyte antigen (CTLA-4), CD40, FOXP3, protein tyrosine phosphatase (PTPN-22), as well as STAT proteins. We point out the possible role of epigenetic regulation mechanism via gene promoter methylation in Xq21-22 and Xp11 regions in AITD development. The importance of studies focused on functional polymorphism variants of immunoregulatory genes, genotype-phenotype correlations, as well as not completely yet recognized epigenetic regulation have also been underlined.
Authors and Affiliations
Ewa Brzeziańska, Aleksandra Gładyś, Daria Domańska
Keywords
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