Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE We also found PTPN22 rs2476601 has no role in susceptibility to RA in Egyptian patients. 28424905

2017

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The functional PTPN22 C1858T polymorphism was associated with an increased risk for RA in our study population. 26951256

2016

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The presence of PTPN22 1858C→T polymorphism with HLA SE and autoantibodies increases risk of RA development and erosive disease. 27324632

2016

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Our data not only establish a molecular link between PTPN22 and PAD-4, but also suggest that the C1858T SNP increases the risk of RA by enhancing protein citrullination and spontaneous formation of NETs. 26019128

2015

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Our meta-analysis demonstrated that PTPN22 rs2476601 and STAT4 rs7574865 polymorphisms confers susceptibility to RA in total subjects and in major ethnic groups. 25963842

2015

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Considering that previous studies in other populations reported the T allele as the risk allele at this locus, the present study concluded that rs2476601 play no role in susceptibility to RA and other autoimmune diseases in Iranian population. 26547712

2015

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The autoimmune-associated genetic variant PTPN22 R620W enhances neutrophil activation and function in patients with rheumatoid arthritis and healthy individuals. 24665115

2015

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation 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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE These results indicate that PTPN22 C1858T genotype has no effect on response or toxicity outcomes in leflunomide-treated RA patients. 25040563

2014

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The strong association of the R620W variant of the PTPN22 gene with RA in Caucasians was not replicated since this variant was monomorphic in our study, but other SNP variants of the PTPN22 gene were also not associated with RA in black South Africans, suggesting that this locus does not play a major role in RA in this population. 25014791

2014

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE This meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with RA susceptibility in different ethnic groups, especially in Europeans, and the PTPN22 C1858T polymorphism T allele is significantly more prevalent in RF-positive patents than in RF-negative patients. 23370857

2013

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.83]), PTPN22 rs2476601 (OR 1.61 [95% confidence interval 1.11-2.31]), and STAT4 rs7574865 (OR 1.41 [95% confidence interval 1.06-1.87]) variants. 23450725

2013

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoantibody status and radiological erosions in rheumatoid arthritis. 23637320

2013

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation 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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE In conclusion, this meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with RA susceptibility in different ethnic groups, especially in Europeans, and the PTPN22 C1858T polymorphism T allele is significantly more prevalent in RF-positive patents than in RF-negative patients. 21706348

2012

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The +1858C/T single-nucleotide polymorphism (SNP) (rs2476601), in the exon 14 of the PTPN22 gene has been associated with susceptibility to RA in several population. 22743847

2012