The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis

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Abstract
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 single-nucleotide polymorphism (SNP) in a candidate gene with RA, a finding replicated in every one of the eight RA cohorts subsequently examined [1–9 ]. The gene is PTPN22, a negative regulator of T-cell activation and the polymorphism is a C → T substitution (rs2476601) at nucleotide position 1858 that leads to a tryptophan (W) for arginine (R) transition at codon 620. This has a demonstrable functional effect, reducing the interaction between the protein and C-terminal Src tyrosine kinase (Csk) and resulting in an increased risk of inappropriate T-cell activation [1, 10].

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