Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PTPN22) gene leading to Arg 620 Trp substitution is known to be associated with susceptibility to type 1 diabetes (T1D) and several other autoimmune diseases. 24913133

2014

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with elevated T1D risk among Caucasian population. 23291413

2013

dbSNP: rs2476601
rs2476601
1.000 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
1.000 GeneticVariation BEFREE We highlight the pathogenic significance of the C1858T PTPN22 polymorphism in human autoimmunity with special reference to Type 1 diabetes. 23261816

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE We investigated whether the PTPN22 C1858T polymorphism is associated with the autoimmune conditions present in the family of a child affected by type 1 diabetes (T1D) carrying the TT genotype (index patient) and the potential immunological effect of the variant. 22809281

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The aim of this study was the investigation for the first time of the association of PTPN22 C1858T polymorphism with T1DM in Greek population. 23936838

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Across all populations, significant associations were found between the PTPN22 C1858T polymorphism and susceptibility to T1D under genotypic (TT vs. CC [OR = 3.656, 95% CI: 3.139-4.257], CT vs. CC [OR = 1.968, 95% CI: 1.683-2.300]), recessive (OR = 3.147, 95% CI: 2.704-3.663), and dominant models (OR = 1.957, 95% CI: 1.817-2.108). 23438410

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE This meta-analysis of TDT confirms that the PTPN22 C1858T polymorphism is associated with T1D susceptibility in Europeans. 23054006

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE After stratification by ethnicity, analysis revealed that the PTPN22 C1858T</span> polymorphism T allele was significantly associated with T1D in Europeans, Americans (OR = 1.946, 95% CI = 1.852~2.045, P < 0.001; OR = 1.946, 95% CI = 1.690~2.242, P < 0.001, respectively). 22429252

2012

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE We set out to analyze the role of two major non-HLA gene polymorphisms associated with type 1 diabetes (T1D), PTPN22 1858C/T and insulin gene INS-23 A/T in progression to clinical T1D after the appearance of β-cell autoimmunity. 22357962

2012

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The results showed a remarkable pattern; PTPN22 C1858T was strongly associated with type I diabetes, rheumatoid arthritis, immune thrombocytopenia, generalized vitiligo with concomitant autoimmune diseases, idiopathic inflammatory myopathies, Graves' disease, juvenile idiopathic arthritis, myasthenia gravis, systemic lupus erythematosus, anti-neutrophil cytoplasmic antibody-associated vasculitis and Addison's disease. 23076337

2012

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299

2011

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The T allele of the C1858T variant is positively associated with proinsulin levels during the first 12 months in newly diagnosed type 1 diabetes children. 21429197

2011

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 21467606

2011

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE These results indicate that the PTPN22 gene polymorphism independent of the SNP rs2476601 might be a supplementary risk factor to AITD, but not in T1D in Koreans, contradicting a major contributory influence of the PTPN22 gene in explaining common mechanism underlying multiple autoimmune diseases. 22069277

2011

dbSNP: rs2476601
rs2476601
A 1.000 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE G(-1123)C and C1858T were in linkage disequilibrium (D' = 0.98; r(2) =0.61 in T1DM and D' = 0.97; r(2) =0.41 in controls). 20518841

2010

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis. 20438787

2010

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE This significant haplotype distribution difference suggests that polymorphisms in the PTPN22 gene other than R620W are involved in either predisposition to or protection from T1D in the Japanese population. 20510318

2010

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE We hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis. 20445565

2010

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) C1858T within the PTPN22 gene was recently associated with autoimmune thyroid disease (AITD) and type I diabetes (T1D). 19090780

2009

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Fourth, at PTPN22, there was evidence for a novel contribution to T1D risk, independent of the replicated effect of the R620W variant. 19956109

2009

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Interplay between PTPN22 C1858T polymorphism and cow's milk formula exposure in type 1 diabetes. 19473815

2009

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009