|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
Among the 26 non-MHC gene alleles analyzed, SNP rs2476601 in PTPN22 gene confers the highest risk for SLE (p = 0.0001; OR = 5.6).
|
31032751 |
2019 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
Case-only analysis using lupus-related clinical criteria revealed differences between EA SLE patients positive for moderate to high titers of IgG anti-cardiolipin (aCL IgG >20) versus negative aCL IgG at rs2476601 (P = 0.012, OR = 1.65).
|
23950893 |
2013 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.
|
16868974 |
2006 |
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
In conclusion, this meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with SLE susceptibility in different ethnic groups, and that its prevalence is ethnicity dependent.
|
21078766 |
2011 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
In observational studies, the associations of 1858 C/T genetic variant were noteworthy for 12 autoimmune or autoimmunity-related diseases (rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, juvenile idiopathic arthritis, Crohn's disease, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, vitiligo, Graves' disease, myasthenia gravis, Addison's disease, giant cell arteritis, and endometriosis).
|
30871019 |
2019 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
In summary, PTPN22 rs2476601 was significantly interrelated with SLE and contributed to susceptibility and development of SLE in Americans, Europeans and Africans in this analysis, while their relationship needs to be validated in Africans by future research.
|
28528372 |
2017 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus.
|
21384170 |
2011 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results.
|
24985973 |
2014 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 R620W was associated with GD susceptibility (OR 4.3, p = 0.004), but was not associated with SLE (OR 1.8, p = 0.19).
|
28500376 |
2017 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 1858C > T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update.
|
28990435 |
2017 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 polymorphisms, but not R620W, were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population.
|
27166176 |
2016 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Type I Interferon in Systemic Lupus Erythematosus.
|
26018863 |
2015 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently a single-nucleotide polymorphism (SNP) 1858 C/T within this gene was shown to be a risk factor for several autoimmune diseases, such as rheumatoid arthritis (RA), Graves' Disease (GD), systemic lupus erythematosus (SLE), Wegener's granulomatosis (WG) and type 1 diabetes mellitus (T1D).
|
21467606 |
2011 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
Since the expression of the negative T-cell signaling molecule PTPN22 is increased and a marker of poor prognosis in SLE, we tested the influence of its missense risk allele Trp<sup>620</sup> (rs2476601C>T) on Treg frequency.
|
31781109 |
2019 |
|
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
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to assess whether the C1858T</span> polymorphism of PTPN22 also confers increased risk for SLE and RA in the genetically homogeneous population of Crete.
|
21543514 |
2011 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
The meta-analysis showed that the 1858C/T polymorphism of the PTPN22 gene is correlated with systemic lupus erythematosus susceptibility, when assessed by distribution characteristics such as nationality, race, and region.
|
23966601 |
2013 |
|
rs2476601
|
|
Lupus Erythematosus, Systemic
|
|
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
|
|
Lupus Erythematosus, Systemic
|
|
0.900 |
GeneticVariation
|
BEFREE |
The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.
|
23359562 |
2013 |