Genetic association of Ctla-4 to myasthenia gravis with thymoma

A Candidate Gene Approach to ANCA-Associated Vasculitis Reveals Links to the C3 and CTLA-4 Genes but not to the IL1-Ra And Fcγ-RIIa Genes

“…The following PCR cycle was run, denaturation at 94 °C for 5 min, then 30 cycles: (i) denaturation at 94 °C for 1.5 min, (ii) annealing at 55 °C for 2 min, and (iii) extension at 72 °C for 2 min, with the last extension period prolonged with 7 min. The size of the amplified fragment depends on the number of AT repeats and ranges between 86 bp and 128 bp [21,22,23]. …”

The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: Back to the future

“…Considering its role as a negative regulator of T-cell activation, it comes as no great surprise that the CTLA-4 gene was found to be associated with a variety of autoimmune conditions [134]. The CTLA-4 gene locus was reported to be linked and/or associated with type 1 diabetes mellitus (T1D) [135e 137], asthma [138], Addison's disease [139], myasthenia gravis [140], Sjogren's syndrome [141], systemic lupus erythematosus (SLE) [142], systemic sclerosis [143], ulcerative colitis [144] and with all forms of AITD (GD, HT, and TAbs [123], see below).…”

Polymorphisms of interferon-γ, interleukin-10, and interleukin-12 genes in myasthenia gravis

“…Other susceptibility markers demonstrated for MG are AChR-␣-subunit, IgG, Fc␥ RII and T cell receptor genes [21]. Associations with polymorphisms at IL-1, tumor necrosis factor-␣, IL-10, and cytotoxic T lymphocyte antigen 4 genes have been reported for subgroups of MG [22][23][24][25][26][27][28], whereas IL-4 and IL-6 gene polymorphisms were not associated with MG [29,30]. In this study, we analyzed the distribution of IFNG, IL12B and IL10 polymorphisms to determine their influence on disease susceptibility or heterogeneity in generalized MG.…”