|
rs2476601
|
|
A |
0.900 |
GeneticVariation |
GWASCAT |
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|
19838195 |
2009 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results confirm an association of the 1858 C>T polymorphism of the PTPN22 gene with SLE, which was previously observed in other populations.
|
19210878 |
2009 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been implicated in the risk to several autoimmune disorders, including type 1 diabetes, Graves' disease, rheumatoid arthritis and systemic lupus erythematosus.
|
18194365 |
2008 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.
|
18759295 |
2008 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.
|
16868974 |
2006 |
|
rs2476601
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele.
|
17092257 |
2006 |
|
rs2476601
|
|
|
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
|
|
|
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 |
|
rs2476601
|
|
|
0.900 |
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
|
|
|