allergic rhinitis (ar) is an ige-mediated upper airway disease, and its impact on asthma has been widely recognized. protein tyrosine phosphatase non-receptor 22 (ptpn22) gene and the cytotoxic t-lymphocyte–associated antigen 4 (ctla-4) gene polymorphisms have been reported to be associated with several immune-related diseases. here we investigated the reffect of these two genes’ polymorphisms ...

Background and objectives: Rheumatoid arthritis (RA) is an autoimmune disease with a complex genetic background. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a lymphoid specific protein tyrosine phosphatase which is involved in negative regulation of T cell response. Several studies have assessed the association between PTPN22 single nucleotide polymorphisms (SNPs) with RA ...

The R620W variant of PTPN22 is one of the major genetic risk factors for several autoimmune disorders including type 1 diabetes (T1D) in humans. In the BioBreeding T1D-prone (BBDP) rat, a single nucleotide polymorphism in Ptpn22 results in an A629T substitution immediately C-terminal to the aliphatic residues central to the Ptpn22-C-terminal Src kinase interaction. This variant exhibits a 50% d...

OBJECTIVE The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene is a member of the PTPs that negatively regulate T-cell activation. A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA). The association was confirmed repeatedly in the populations ...

OBJECTIVE To analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA). METHODS Our study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany,...

A single nucleotide polymorphism in PTPN22 (R620W), which encodes the Lyp tyrosine phosphatase, has been linked to a number of autoimmune diseases including type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. Studies in PTPN22 knockout (KO) mice and in mice expressing the mouse homolog of the pro-autoimmune allele, PEP(R619W), have reported increased germinal center activit...

BACKGROUND As a susceptibility gene for AS, the polymorphsims of PTPN22 associated with disease susceptibility. METHODS We selected two SNPs of rs1217406 and rs1217414 within PTPN22 with Haploview software and investigated the relationship between the SNPs of PTPN22 gene and AS susceptibility. 120 AS patients and 100 healthy people were enrolled from Qilu Hospital of Shandong University. And ...

OBJECTIVE To examine single-nucleotide polymorphisms (SNPs) of the protein tyrosine phosphatase N22 gene (PTPN22) and to study the relationship between PTPN22 and the HLA region in patients with idiopathic inflammatory myopathies (IIMs). METHODS PTPN22 SNPs were assessed in a large, cross-sectional, case-control study from the UK involving patients with adult or juvenile IIM, comprising patie...

INTRODUCTION To determine whether the PTPN22 (protein tyrosine phosphatase nonreceptor 22)/CSK (c-src tyrosine kinase) pathway is implicated in the susceptibility and clinical heterogeneity of Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies. METHODS A set of 329 Spanish patients diagnosed with HSP fulfilling the American College...

The cytoplasmic phosphatase, protein tyrosine phosphatase nonreceptor type 22 (PTPN22), is a negative regulator of T cell signaling. Genome-wide association studies have shown that single-nucleotide polymorphisms in PTPN22 confer an increased risk of developing multiple autoimmune diseases in humans. The precise function of PTPN22 and how the variant protein contributes to autoimmunity is not w...