Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
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

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Role of the C1858T polymorphism of protein tyrosine phosphatase non-receptor type 22 (PTPN22) in children and adolescents with type 1 diabetes. 26902538

2017

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2016

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE PTPN22 rs2476601 is associated with JIA and numerous other autoimmune diseases, and has been reported to show female-specific association with type 1 diabetes. 26291515

2016

dbSNP: rs2476601
rs2476601
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

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02). 26485223

2016

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Analysis of PTPN22 C1858T gene polymorphism in cases with type 1 diabetes of Azerbaijan, Northwest Iran. 25243643

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE There was no association between the single nucleotide polymorphism 1858C>T and Type 1 diabetes in our studied cohort. 24117662

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE These SNPs were also significantly associated with T1D in particular: rs2476601 (HR 2.42 [95% CI 1.70-3.44]). 25422107

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Altered B cell homeostasis and toll-like receptor 9-driven response in type 1 diabetes carriers of the C1858T PTPN22 allelic variant: implications in the disease pathogenesis. 25333705

2015

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

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles; for INS and protein tyrosine phosphatase, non-receptor type 22 gene polymorphisms (rs689 and rs2476601); and for diabetes-associated autoantibodies. 25256132

2015

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Preserved proinsulin production in homozygous protein tyrosine phosphatase nonreceptor type 22 C1858T variant type 1 diabetes: a possible explanation for absence of overt ketoacidosis despite omission of exogenous insulin. 23337153

2014

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE The role of PTPN22 C1858T gene polymorphism in diabetes mellitus type 1: first evaluation in Greek children and adolescents. 23936838

2014

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE In contrast to previous reports, we found no evidence for an alteration of the B cell compartment in healthy individuals homozygous for the non-synonymous PTPN22 Trp(620) T1D risk allele (rs2476601; Arg(620) Trp). 24773525

2014

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

2014

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE PTPN22 gene polymorphism (C1858T) is associated with susceptibility to type 1 diabetes: a meta-analysis of 19,495 cases and 25,341 controls. 23438410

2013

dbSNP: rs2476601
rs2476601
1.000 GeneticVariation BEFREE Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and type 1 diabetes. 23054006

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 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 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

2013

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 Association of PTPN22 C1858T polymorphism and type 1 diabetes: a meta-analysis. 22429252

2012

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

2012