|
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 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The resulting Ptpn22(R619W) mice showed increased insulin autoantibodies and earlier onset and higher penetrance of T1D.
|
27207523 |
2016 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
2015 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
GWASCAT |
High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.
|
24532676 |
2015 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We found that the TT +TC genotype and the T allele of C1858T were more frequent in T1DM patients (19.40 and 10.0%, respectively) than in healthy subjects (7.51 and 4.0%, respectively), and the difference was significant (both P < 0.001).
|
25729936 |
2015 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
GWASCAT |
Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.
|
25936594 |
2015 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The PTPN22 C1858T is not relevant in susceptibility to T1D in the Azeri population of Northwest Iran.
|
25243643 |
2015 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
Polymorphisms in the TNF-α(rs1800629), CTLA-4 (rs231775), and PTPN22 (rs2476601) genes have been previous associated with T1D; however, there is no consensus regarding their role in T1D and scarce literature focusing on AIDT and/or CD.
|
26782543 |
2015 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
|
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 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
2015 |
|
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 |
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
GWASCAT |
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
|
24449572 |
2014 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
GWASCAT |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
GWASDB |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
GWASDB |
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
|
24449572 |
2014 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
There was no association between the single nucleotide polymorphism 1858C>T and Type 1 diabetes in our studied cohort.
|
24117662 |
2014 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |