|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families.
|
15526003 |
2004 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
Recently, it has been reported that a single nucleotide polymorphism (SNP), 1858C>T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which has been shown to be a negative regulator of T-cell activation, is associated with an increased risk of type 1 diabetes.
|
15504986 |
2004 |
|
Lupus Erythematosus, Systemic
|
|
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 |
|
Encephalitis, St. Louis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
|
15273934 |
2004 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.
|
16322396 |
2005 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
In this study, a set of 341 white, multiplex T1D families were genotyped for the C1858T single nucleotide polymorphism of PTPN22, and transmission disequilibrium test analysis revealed significant association (p = 0.005) of the T allele with T1D.
|
15620463 |
2005 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We have genotyped 396 type 1 diabetic patients and 1,178 control subjects of Caucasian descent from north central Florida and report a strong association between type 1 diabetes and a polymorphism (R620W) in the PTPN22 gene.
|
15734872 |
2005 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R620W) in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis.
|
15719322 |
2005 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases.
|
15759012 |
2005 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
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 |
|
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 |
|
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 |
|
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 |
|
Lupus Erythematosus, Systemic
|
|
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 |
|
Autoimmune Diseases
|
|
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 |
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, the association of a coding variant of the PTPN22 gene-R620W(1858C>T) with a number of autoimmune diseases has been described.
|
15875058 |
2005 |
|
Autoimmune Diseases
|
|
0.900 |
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 |
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The results indicate that the LYP missense R620W polymorphism may have an influence on the development of generalised vitiligo and provide further evidence for autoimmunity as an aetiological factor with respect to this disease.
|
16015369 |
2005 |
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now been conclusively shown to confer approximately two-fold risk for seropositive RA as well as several other autoimmune disorders.
|
15790351 |
2005 |