Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data demonstrated the aberrant expression of circRNAs in patients with SLE compared with healthy controls; circPTPN22 might function as a diagnostic and disease severity indicator in SLE.
|
30871426 |
2019 |
Lupus Erythematosus, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
PTPN22 (that encodes a tyrosine phosphatase) has been associated with the development of several autoimmune diseases, including type 1 diabetes, rheumatoid arthritis and systemic lupus erythematosus.
|
29512901 |
2018 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
|
27193031 |
2017 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, PTPN22 R263Q was associated with protection against SLE (OR 0.09, p = 004) and RA (OR 0.28, p = 0.045), but was not associated with GD.
|
28500376 |
2017 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PTPN22 1858C > T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update.
|
28990435 |
2017 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of known SLE risk loci identified a strong association between PTPN22 and the risk of hematologic disorder and with the development of antinuclear antibodies.
|
28619073 |
2017 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Transancestral mapping and genetic load in systemic lupus erythematosus.
|
28714469 |
2017 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The two SNPs rs1217414 and rs3811021 of PTPN22 shown strong association with both SLE (rs1217414T: padj = 6.07e-004, OR=0.57; rs3811021C: padj = 4.68e-005, OR=0.65) and RA (rs1217414T: padj = 2.01e-008, OR=0.26; rs3811021C: padj = 0.028, OR=0.70).
|
27166176 |
2016 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haplotype analysis showed strong linkage disequilibrium D' = 0.98 for PTPN22 -1123G>C and +1858C>T polymorphisms, but haplotypes were not associated with SLE.
|
26013387 |
2016 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
|
27399966 |
2016 |
Lupus Erythematosus, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study may provide an additional evidence for the association between IRF5 and PTPN22 and lupus susceptibility and may exclude it for CD28, IL2RA, and KIF5A.
|
26092158 |
2015 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
|
26502338 |
2015 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PDCs from SLE patients carrying the disease-associated PTPN22 variant LypW showed a reduced capacity for TLR-7 agonist-induced type I IFN production, even though LypW carriers displayed systemic type I IFN activation comparable with that observed in noncarriers.
|
26018863 |
2015 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Human genetics studies have shown that a single-nucleotide polymorphism in PTPN22 is often mutated in patients suffering from autoimmune diseases such as type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosis.
|
24188455 |
2014 |
Lupus Erythematosus, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
PTPN22 exemplifies a shared autoimmunity gene, affecting the pathogenesis of systemic lupus erythematosus, vasculitis and other autoimmune diseases.
|
25003765 |
2014 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results.
|
24985973 |
2014 |
Lupus Erythematosus, Systemic
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Correlation between the level of PTPN22 isoforms in peripheral blood and clinical features of SLE was examined with statistical analyses.
|
24433447 |
2014 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
GeneticVariation
|
disease |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genetics and epigenetics of systemic lupus erythematosus.
|
23943494 |
2013 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
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 |