|
rs2476601
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
|
27193031 |
2017 |
|
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 |
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 |
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.
|
16868974 |
2006 |
|
rs2476601
|
|
A |
0.900 |
GeneticVariation |
GWASCAT |
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
|
26502338 |
2015 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
|
27399966 |
2016 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
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 |
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
|
|
|
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
|
|
|
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
|
|
|
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 |
No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus.
|
21384170 |
2011 |
|
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 |
PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results.
|
24985973 |
2014 |
|
rs2476601
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
PTPN22 1858C > T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update.
|
28990435 |
2017 |
|
rs2476601
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |