Graves’ disease (GD) is a multifactorial autoimmune with contribution from both genetic andepigenetic factors in its causation. Gene “protein tyrosine phosphatase non receptor 22” (PTPN22) animportant immune regulatory gene preventing hyper responsiveness of T cells by negatively regulatingtheir signal transduction. Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) polymorphisms belong to themain deter...

background: single-nucleotide polymorphism (snp) rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene (ptpn22) has been shown to be a risk factor for different autoimmune diseases. this study explored the association of 1858 c/t snp with rheumatoid arthritis (ra) and celiac disease (cd) in a region covering south-west of iran. methods: totally, 52 patients with cd, 120 patien...

Several candidate-genes for Rheumatoid Arthritis are studied using multi-marker association scores based on 839 cases and 855 unrelated controls from the North American Rheumatoid Arthritis Consortium (NARAC) as part of the Genetic Analysis Workshop 15 data. Strong signals previously identified on PTPN22 and PADI4 were repeated in our findings. We also found significant association evidence tha...

INTRODUCTION Approximately 100 loci have been definitively associated with rheumatoid arthritis (RA) susceptibility. However, they explain only a fraction of RA heritability. Interactions between polymorphisms could explain part of the remaining heritability. Multiple interactions have been reported, but only the shared epitope (SE) × protein tyrosine phosphatase nonreceptor type 22 (PTPN22) in...

OBJECTIVE The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease. Some studies have reported additional associated SNPs inde...

Objective To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results A significant increased risk in al...

Candidate-gene association studies in rheumatoid arthritis (RA) have lead to encouraging yet apparently inconsistent results. One explanation for the inconsistency is insufficient power to detect modest effects in the context of a low prior probability of a true effect. To overcome this limitation, we selected alleles with an increased probability of a disease association, on the basis of a rev...

Type 1 diabetes and thyroid disease are T cell-dependent autoimmune endocrinopathies. The standard substitutive administration of the deficient hormones does not halt the autoimmune process; therefore, development of immunotherapies aiming to preserve the residual hormonal cells, is of crucial importance. PTPN22 C1858T mutation encoding for the R620W lymphoid tyrosine phosphatase variant, plays...

The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA). We have shown that carriage of the T variant (CT or TT) of PTPN22 in combination with anti-cyclic citrullinated peptide (anti-CCP) antibodies highly increases the odds ratio for developing RA. In the present study we analysed the association between the PTPN22 1858C/T polymo...

Despite the wealth of evidence to support the involvement of multiple genetic factors in rheumatoid arthritis (RA), since the identification of the link between RA and HLA class II genes over 30 yr ago no single convincing non-HLA gene has emerged. Finally last year came a breakthrough with the association of a singlenucleotide polymorphism (SNP) in a candidate gene with RA, a finding replicate...