CD3Z polymorphisms and promoter hypermethylation in dermatomyositis - the role of cytosine-phosphate-guanine-related single nucleotide polymorphisms

Advances in CD247

“…82 The rs840015GG genotype was found predominant among the patients with DM and the GA genotype, being associated with reduced methylation, has a protective role for the development of the disease. 62 The downregulation of TCR ζ expression in paediatric primary nephrotic syndrome patients may contribute to the increased risk of infection in these patients. 71 There are significant ethnic differences in CD247 as a susceptibility gene for SSc.…”

“…58,59 ; The minor alleles of the SNPs of CD247 3-UTR (rs1052230 and rs1052231) were found to be causal variants associated with low expression of TCRζ in European populations and may be associated with disease severity, 60 ;in Bulgarian population; however, these two SNPs were found to have no risk of disease progression and the CD3Z −844 AA+AT genotype was associated with the development of SLE in women.. 61 These two SNPs were also not associated with the development of dermatomyositis(DM), and the only associations were with some clinical manifestations of DM such as photosensitivity and cutaneous disease. 62 4. In Korean SLE patients (n = 157), the level of CpG island methylation of CD3ζ was significantly increased, which downregulated the CD3ζ chain and caused T cell dysfunction and aggravated the clinical manifestations of SLE.…”