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Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) molecule belongs to the immunoglobulin superfamily and is a critical down-regulatory molecule expressed on T cells that inhibits T cell activation and maintains peripheral tolerance.1 Previous meta-analyses indicated that exon 1 +49G (rs231775) on CTLA-4 could be a possible genetic risk factor for rheumatoid arthritis (RA).2 3 It causes a non-synonymous substitution in the CTLA-4 protein and has been suggested to influence inhibitory function of CTLA-4 by changing the cell surface expression.4 Recently, CT60 (rs3087243), another polymorphism on 3′ untranslated region, was identified as a disease causal variant for a variety of autoimmune diseases.5 The result was confirmed in a large-scale population of European descent with RA and in a Han Chinese population with RA. …
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