|
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 |
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 |
No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus.
|
21384170 |
2011 |
|
rs2476601
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population.
|
20739780 |
2010 |
|
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 |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
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 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
|
|
|
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 |
To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.
|
26092158 |
2015 |
|
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
|
|
|
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 |
UNIPROT |
|
|
|
|
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 |
We investigated whether a single nucleotide polymorphism (SNP) of the STAT4 (rs7574865), PTPN22 (rs2476601), TRAF1/C5 (rs10818488), and C1q (rs292001) genes as well as the 27-bp VNTR polymorphism on intron 4 of eNOS, previously associated with SLE in other populations, are also associated with SLE risk in Turkey.
|
21968398 |
2011 |
|
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
|
|
A |
0.900 |
GeneticVariation |
GWASCAT |
Transancestral mapping and genetic load in systemic lupus erythematosus.
|
28714469 |
2017 |
|
rs2476601
|
|
|
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 |
|
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 |
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 |
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 |
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 |
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 |
The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population.
|
22704547 |
2012 |
|
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 |