Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies.
Innate immune activity as a predictor of persistent insulin secretion and association with responsiveness to CTLA4-Ig treatment in recent-onset type 1 diabetes.
The role of HLA, PTPN22, INS-VNTR, and CTLA4 in T1D predisposition was analyzed in Brazilian T1D patients (n = 915), with 81.7% self-reporting as white and 789 controls (65.6% white).
In conclusion, CTLA4+49A/G polymorphisms increased the risk of T1D in children, and CTLA4+49A/G can be considered to be a genetic marker for T1D in children.
The possible common genetic background and the potential role of CTLA-4 Ig in the early phases of T1DM, could be considered in the therapeutic interventions in RA patients with type 1 diabetes.
Many studies have shown that cytotoxic T lymphocyte antigen-4 (CTLA-4) gene variants are associated with several autoimmune diseases particularly type 1 diabetes.
The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4)+49 A/G polymorphism has been shown to confer genetic susceptibility to positive anti-glutamic acid decarboxylase antibodies in patients with type 1 diabetes mellitus in Japan.
Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed.
Previous studies of isolated T1D and of T1D combined with other autoimmune disorders showed genetic susceptibility for alleles in HLA-DQB1 and -DRB1 and also CTLA4 and PTPN22.
The current study demonstrates that although CTLA-4-318C/T polymorphism was not linked with a higher genetic risk for T1D, the presence of a CT genotype was associated with a younger age of onset, poor control of HbA1c level and positive anti-GAD or IA-2 serum autoantibodies in Iranian Azeri population.
This meta-analysis demonstrated that the G49A and C60T polymorphism of CTLA4 is a risk factor associated with increased T1D susceptibility, but these associations vary in different ethnic populations.