rs2476601
|
|
|
1.000 |
GeneticVariation |
UNIPROT |
|
|
|
rs2476601
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
rs2476601
|
|
|
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 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo.
|
16464986 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Recently, the minor allele of a single-nucleotide polymorphism (SNP) at nucleotide position 1858 (rs2476601, +1858C > T) was found to be associated with type 1 diabetes.
|
16470599 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
In the pathogenesis of type 1 diabetes the underlying mechanism of the PTPN22 C1858T polymorphism appears to involve regulation of insulin-specific autoimmunity.
|
16614815 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The aim of this study has been to investigate the possible association of 1858C-->T PTPN22 polymorphism and type 1 diabetes (T1D) in Caucasians from Ukraine.
|
16671953 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The R620W (1858C-->T) polymorphism in PTPN22 has been implicated in type 1 diabetes mellitus, rheumatoid arthritis, Graves' disease, Hashimoto thyroiditis, autoimmune thyroid disease, and systemic lupus erythematosus (SLE).
|
16868974 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo.
|
16893384 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin.
|
17000021 |
2007 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes in the PTPN22 locus, but they suggest that additional infrequent coding variants at PTPN22 may also contribute to type 1 diabetes risk.
|
17003357 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped in 753 patients with T1D ascertained from the diabetes clinic at the Barbara Davis Center in Denver and 662 control population.
|
17054449 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in Caucasian populations, but the variant was absent in Asian populations including Japanese.
|
17130532 |
2006 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits.
|
17259401 |
2007 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
TPOAbs status did not correlate with age at diagnosis of type 1 diabetes or with PTPN22 (Arg620Trp; rs2476601).
|
17334650 |
2007 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Caucasians, but the variant was absent in Asians.
|
17452059 |
2007 |
rs2476601
|
|
T |
1.000 |
GeneticVariation |
GWASDB |
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
|
17554260 |
2007 |
rs2476601
|
|
T |
1.000 |
GeneticVariation |
GWASCAT |
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
|
17554260 |
2007 |
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
|
17632545 |
2007 |