Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A coding variant in PTPN22 (C1858T) is one of the most important genetic risk factors in type 1 diabetes (T1D). 31732921 2020
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The B cells percentage and mCD40 expression were similar between RA and CS (P > 0.05) and we did not find an association between these variables and the 1858C>T polymorphism. 30402903 2019
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE 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. 31808541 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis. 30899276 2019
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The aim of this meta-analysis was to determine the association of common type 1 diabetes (T1D) and type 2 diabetes (T2D) gene variants (protein tyrosine phosphatase non-receptor 22 [PTPN22] rs2476601C/T, insulin [INS] rs689A/T and transcription factor 7-like 2 [TCF7L2] rs7903146C/T) with latent autoimmune diabetes in adults (LADA). 30456822 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE PTPN22 rs2476601 polymorphism frequency was higher in RA and UA vs the general population; however, this was significantly different only for RA vs control group (OR [95% CI] = 1.81 [1.10-3.02], P = 0.018. 30306282 2019
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE We examined <i>PTPN22</i> rs2476601 (p.Arg620Trp), <i>NLRP3</i> rs35829419 (p.Gln705Lys), and <i>CARD8</i> rs2043211 (p.Cys10Ter) in 66 subjects with coexisting T1D and CD, 65 subjects with T1D who did not develop CD, 67 subjects diagnosed only with CD and 127 healthy unrelated Slovenian individuals. 30915320 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Results showed that 1858 C/T PTPN22 SNP significantly (P =  0.007, OR = 2.321, 95% CI = 1.063-5.067) associated with RA. 31669381 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset. 30891314 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The data presented here suggests that the T allele of PTPN-22 C1858T polymorphism might be a risk factor for T1D development in Saudi children. 29611765 2018
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A C1858T single nucleotide polymorphism within PTPN22 (which encodes PTPN22<sup>R620W</sup>) is associated with an enhanced susceptibility to multiple autoimmune diseases including type 1 diabetes and rheumatoid arthritis. 30139951 2018
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A significant association was detected between the variant genotype of the PTPN22 gene (C1858T, rs2476601) and T1DM in Kuwaiti Arabs. 29924845 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE A C1858T single nucleotide polymorphism within PTPN22 (which encodes PTPN22<sup>R620W</sup>) is associated with an enhanced susceptibility to multiple autoimmune diseases including type 1 diabetes and rheumatoid arthritis. 30139951 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Here we aimed to examine the associations of the PTPN22 R620W and R263Q polymorphisms with susceptibility to or protection against rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD) among Mexican patients. 28500376 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE We also found PTPN22 rs2476601 has no role in susceptibility to RA in Egyptian patients. 28424905 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031 2017
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The aim of this study is to define the frequency of the C1858T polymorphism in the PTPN22 gene in a cohort of 113 Caucasian patients (58 males and 55 females) with T1D, and to assess a possible correlation with a group of clinically relevant variables: age at onset, gender, diabetes-related autoantibodies, residual β-cell function and daily insulin requirement (IR) 6 months after diagnosis. 26902538 2017
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE C1858T Polymorphism of Protein Tyrosine Phosphatase Non-receptor Type 22 (PTPN22): an eligible target for prevention of type 1 diabetes? 27892782 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Our study shows for the first time a marked down-regulation of PTPN22 expression in RA patients carrying the risk alleles of PTPN22 rs2488457 and rs2476601 compared to controls (p = 0.004 and p = 0.007, respectively). 28874816 2017
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases. 28375784 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE However, our meta-analysis confirms that the PTPN22 1858C/T</span> polymorphism is associated with RA susceptibility in Caucasians. 26763276 2016
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Genotyping in 3,609 T1D families showed that rs56048322 was significantly associated with T1D and that this association was independent of the T1D-associated common variant rs2476601. 26631741 2016
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1.000 GeneticVariation BEFREE PTPN22 polymorphisms, but not R620W, were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population. 27166176 2016