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 UNIPROT

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). 15641066

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE There was a strong dose effect on disease risk; two copies of the PTPN22 R620W allele more than doubles the risk for RF positive RA (OR=4.57, 95% CI 2.35-8.89). 15674368

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. 15986374

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Additional analyses identified two SNPs on a single common haplotype that are associated with RA independent of R620W, suggesting that R620W and at least one additional variant in the PTPN22 gene region influence RA susceptibility. 16175503

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE PTPN22 has emerged strongly as a genuine rheumatoid arthritis susceptibility gene with replications of the association to the R620W single nucleotide polymorphism. 16462519

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype. 16490755

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently reported to be associated with several autoimmune diseases including rheumatoid arthritis</span> (RA). 16690758

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. 16893384

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE We conclude that C1858T is the sole PTPN22 variant predisposing to RA in our white Dutch sample set. 17135225

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Having previously reported significant association of the T allele of rs2476601 in a Graves' disease (GD) cohort, we sought to determine whether novel rheumatoid arthritis-associated SNPs were also contributing to susceptibility to GD. 17148556

2007

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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Anti-citrullinated peptide antibodies (ACPA) and the C1858T missense single-nucleotide polymorphism (SNP) in the PTPN22 gene are both associated with the development of rheumatoid arthritis (RA). 17341507

2007

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

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE A longitudinally followed cohort of 238 Norwegian patients with RA (the EURIDISS cohort) was genotyped for the PTPN22 1858C-->T polymorphism. 17472988

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA). 17553139

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE We investigated whether polymorphism 1858C>T in PTPN22 gene is associated with susceptibility to allergic asthma and RA in a Polish population. 17579671

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material. 17661906

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE To compare the distribution and assess genetic associations of the PTPN22 R620W single-nucleotide polymorphism among South Asian (Asiatic Indian) patients with rheumatoid arthritis (RA) and ethnically matched controls. 17696275

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE To analyse the relationship between the presence of auto-antibodies [rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP)], HLA-DRB1 alleles and PTPN22 1858 C/T polymorphism and test the value of their combination as susceptibility markers for rheumatoid arthritis (RA). 18156150

2008

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease. 18305142

2008