Gene association studies are very appealing in autoimmune diseases. In recent years, access to other human
gene sequences prompted investigators to focus on genes encoding the immune regulatory proteins such as the costimulatory,
adhesion molecules, cytokines and chemokines and their receptors. Among them, cytotoxic T-lymphocyte
antigen-4 (CTLA-4) has been extensively studied for its pivotal role in autoimmunity. As a central regulatory element of
the immune responses magnitude, CTLA-4 could act as a double-edged sword and only the optimal expression ensures
an effective, but at the same time, safe immune response. Thus, we can argue that CTLA-4 alleles associated with abnormal
membrane expression could make a person more susceptible to tumor growth and/or manifestation of autoimmune
diseases. Unfortunately, the relationship between the presence of SNP conferring susceptibility/protection to autoimmune
disease and the genetic regulation/modification of CTLA-4 is the not yet fully clarified, and in some aspects conflicting.
Keywords: Autoimmune disease, autoimmune thyroid diseases, celiac disease, CTLA-4, Grave’s disease, Hashimoto’s thyroiditis,
immunoregulation, multiple sclerosis, myasthenia gravis, non-HLA genes, primary biliary cirrhosis, rheumatoid arthritis,
single nucleotide polymorphisms, T-cell activation, T-cell inhibition.
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