Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
0.900 GeneticVariation UNIPROT

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The R620W SNP was associated with SLE (genotypic P=.00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. 15273934

2004

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05-2.29]). 15641066

2005

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our sample of Caucasian individuals from northern America, the UK, or Finland, but it appears to be a risk factor for the concurrent autoimmune diseases of autoimmune thyroid disease and SLE. 16052563

2005

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE A missense single-nucleotide polymorphism (SNP) within this gene (rs2476601) has recently been associated with 4 autoimmune diseases: rheumatoid arthritis (RA), systemic lupus erythematosus, autoimmune thyroid disease, and type 1 diabetes mellitus, all of which are T cell-mediated and associated with the elaboration of autoantibody. 15934099

2005

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. 16868974

2006

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. 16464986

2006

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele. 17092257

2006

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been implicated in the risk to several autoimmune disorders, including type 1 diabetes, Graves' disease, rheumatoid arthritis and systemic lupus erythematosus. 18194365

2008

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. 18759295

2008

dbSNP: rs2476601
rs2476601
A 0.900 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195

2009

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Our results confirm an association of the 1858 C>T polymorphism of the PTPN22 gene with SLE, which was previously observed in other populations. 19210878

2009

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. 20739780

2010

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. 21384170

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE In conclusion, this meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with SLE susceptibility in different ethnic groups, and that its prevalence is ethnicity dependent. 21078766

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE We investigated whether a single nucleotide polymorphism (SNP) of the STAT4 (rs7574865), PTPN22 (rs2476601), TRAF1/C5 (rs10818488), and C1q (rs292001) genes as well as the 27-bp VNTR polymorphism on intron 4 of eNOS, previously associated with SLE in other populations, are also associated with SLE risk in Turkey. 21968398

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Recently a single-nucleotide polymorphism (SNP) 1858 C/T within this gene was shown to be a risk factor for several autoimmune diseases, such as rheumatoid arthritis (RA), Graves' Disease (GD), systemic lupus erythematosus (SLE), Wegener's granulomatosis (WG) and type 1 diabetes mellitus (T1D). 21467606

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The aim of this study was to assess whether the C1858T</span> polymorphism of PTPN22 also confers increased risk for SLE and RA in the genetically homogeneous population of Crete. 21543514

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population. 22704547

2012

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The meta-analysis showed that the 1858C/T polymorphism of the PTPN22 gene is correlated with systemic lupus erythematosus susceptibility, when assessed by distribution characteristics such as nationality, race, and region. 23966601

2013

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. 23359562

2013

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Case-only analysis using lupus-related clinical criteria revealed differences between EA SLE patients positive for moderate to high titers of IgG anti-cardiolipin (aCL IgG >20) versus negative aCL IgG at rs2476601 (P = 0.012, OR = 1.65). 23950893

2013

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results. 24985973

2014

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158

2015

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Type I Interferon in Systemic Lupus Erythematosus. 26018863

2015