Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE In conclusion, we found an association between PTPN22 rs2476601 and EGFR rs17337023 polymorphisms and the risk of RA in a sample of Iranian population. 23350658 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). 19898480 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene. 17170052 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The autoimmune-associated genetic variant PTPN22 R620W enhances neutrophil activation and function in patients with rheumatoid arthritis and healthy individuals. 24665115 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE A functional variant of protein tyrosine phosphatase nonreceptor 22 (PTPN22) has recently been shown to be associated with multiple autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, type 1 diabetes, and autoimmune thyroid disease. 18075792 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE PTPN22 polymorphism and anti-cyclic citrullinated peptide antibodies in combination strongly predicts future onset of rheumatoid arthritis and has a specificity of 100% for the disease. 16507117 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Similarly, the presence or absence of the HLA-DRB1 shared epitope or the RA-associated PTPN22 allele had no influence on this association. 18812394 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis. 20498205 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE ORs for associations with different HLA-DRB1 alleles, PTPN22 genotypes and smoking were calculated separately for each cohort as well as in meta-analysis in RA subsets defined by the presence/absence of anti-CarP and anticyclic citrullinated peptide (anti-CCP) antibodies. 24812286 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Interactions between HLA and PTPN22 genotypes and smoking have been implicated in overall susceptibility to rheumatoid arthritis as well as the incidence of particular disease phenotypes in case-control and case-only studies. 20125172 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 Biomarker disease BEFREE We confirmed the previously reported association of PTPN22 with RF-positive RA, which was independent from the HLA-DRB1 genotype. 16490755 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE We also found PTPN22 rs2476601 has no role in susceptibility to RA in Egyptian patients. 28424905 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The PTPN22 variant was strongly associated with T1D in cases vs controls (P=2 x 10(-7), OR=2.3, 95% CI=1.7-3.1) as well as in a transmission disequilibrium test in nuclear trio's (P=9 x 10(-9), OR=3.3, CI=2.1-5.0), RA (case/control: P=0.003, OR=1.8 CI =1.2-2.6), but not CD, in spite of a trend of increased homozygosity (P=0.05) and early age at onset (P=0.01). 15875058 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in the protein, and is the most important non-HLA genetic risk factor for rheumatoid arthritis and the second most important for juvenile idiopathic arthritis. 25003765 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Our study suggests that the PTPN22 C1858T polymorphism acts as a susceptibility gene for autoantibody-positive RA in Turkey. 21506938 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The aim of this study was to assess whether the C1858T polymorphism of PTPN22 also confers increased risk for SLE and RA in the genetically homogeneous population of Crete. 21543514 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE This meta-analysis demonstrates that the PTPN22 1858T allele confers susceptibility to RA, SLE, GD, T1D and JIA, supporting evidence of association of the PTPN22 gene with subgroup of autoimmune diseases. 16760194 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The PTPN22 T1858 allele was significantly more frequent in RA patients compared to controls (5.7% vs. 3.7%, p = 0.045). 21949702 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The 620W allele of PTPN22 has been associated with susceptibility to several different forms of chronic inflammatory disease, including Type 1 diabetes (T1D), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and autoimmune thyroiditis (AIT). 16391555 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The recent meta-analysis of GWAS has expanded the total number of RA-associated loci to more than 100, out of which approximately ∼97% (98 variants) loci are located in non-coding regions, and the other ∼3% (3 variants) are in three different non-HLA genes, i.e., TYK2 (Prp1104Ala), IL6R (Asp358Ala), and PTPN22 (Trp620Arg). 30899276 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 AlteredExpression disease BEFREE We have demonstrated significant differences in expression of PTPN22 alleles in RA patients, indicating the probable existence of cis-acting regulatory elements. 22632125 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Sixty-three RA patients were included.Nine genes (13 SNPs) were subsequently analyzed, including those coding for cytokines involved in synovitis (IL10, LTA, TGFβ1, TNF-α, TNF receptor II) and genes associated with RA susceptibility (-C5 TRAF1, STAT4, TNFAIP3 and PTPN22). 22129793 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A allele of PTPN22 R620W was seen in all three studies regarding anti-CCP-positive RA. 17436241 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE We compared the allele frequencies of five haplotype-tagging SNPs in the PTPN22 gene, 2 of which are reportedly associated with RA in Caucasians (rs3789604 and rs1310182), and compared haplotype distributions between 184 Japanese T1D patients and 179 healthy controls. rs3789604 was not associated with T1D in our Japanese subjects. 20510318 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Because the gene confers an impact on autoimmune diseases, we attempt to explore an association between PTPN22 gene and RA in a Japanese population without restricting to the SNP, R620W. 16690758 2006