|
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2476601
|
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2476601
|
|
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2476601
|
|
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 |
|
rs2476601
|
|
Encephalitis, St. Louis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
|
15273934 |
2004 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.
|
15759012 |
2005 |
|
rs2476601
|
|
Juvenile arthritis
|
|
0.090 |
GeneticVariation
|
BEFREE |
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.
|
15759012 |
2005 |
|
rs2476601
|
|
Juvenile rheumatoid arthritis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.
|
15759012 |
2005 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
Seropositive rheumatoid arthritis
|
|
0.010 |
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 |
|
rs2476601
|
|
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 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases.
|
15933742 |
2005 |
|
rs2476601
|
|
Primary Sjögren's syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, 1858 C/T polymorphism of PTPN22 gene is not involved in genetic predisposition to pSS.
|
15933742 |
2005 |
|
rs2476601
|
|
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 |