Diabetes Mellitus, Insulin-Dependent
|
0.900 |
SusceptibilityMutation
|
disease |
RGD |
These findings are consistent with a role for rat Ptpn22 allelic variation within Iddm26.2 in the regulation of T cell responses, and subsequently the risk for development of T1D.
|
25505293 |
2015 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.
|
22654485 |
2012 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|
19838195 |
2009 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
|
15273934 |
2004 |
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 |
Lupus Erythematosus, Systemic
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical sub-phenotypes across four ethnically diverse populations.
|
23950893 |
2013 |
Giant Cell Arteritis
|
0.340 |
SusceptibilityMutation
|
disease |
ORPHANET |
Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA.
|
23946333 |
2013 |
Granulomatosis with polyangiitis
|
0.330 |
SusceptibilityMutation
|
disease |
ORPHANET |
The protein tyrosine phosphatase nonreceptor 22 C1858T polymorphism and vasculitis: a meta-analysis.
|
22696186 |
2012 |
Granulomatosis with polyangiitis
|
0.330 |
SusceptibilityMutation
|
disease |
ORPHANET |
Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.
|
22508400 |
2012 |
Uveomeningoencephalitic Syndrome
|
0.320 |
SusceptibilityMutation
|
disease |
ORPHANET |
The study showed that a functional variant of PTPN22 confers risk for VKH syndrome but not for AAU+AS+ in a Chinese Han population, which may be due to a modulation of the PTPN22 expression, PBMC proliferation and IL-10 production.
|
24816862 |
2014 |
Temporal Arteritis
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.
|
23946333 |
2013 |
Juvenile pauciarticular chronic arthritis
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
|
23603761 |
2013 |
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 |
Rheumatoid Arthritis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We have demonstrated significant differences in expression of PTPN22 alleles in RA patients, indicating the probable existence of cis-acting regulatory elements.
|
22632125 |
2012 |
Rheumatoid Arthritis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, a reduced PTPN22 expression was disclosed in RA patients with ischemic heart disease (p = 0.009).
|
28874816 |
2017 |
Rheumatoid Arthritis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In addition, how the overall activity of PTPN22 is regulated and how the R-to-W conversion contributes to rheumatoid arthritis is still poorly understood.
|
22427951 |
2012 |
Rheumatoid Arthritis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
More importantly, the in vitro normalization of PTPN22 expression correlates with clinical response to the targeted therapies in a longitudinal RA cohort.
|
31030958 |
2019 |
Autoimmune Diseases
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Furthermore, the Q263 variant conferred protection against human systemic lupus erythematosus, reinforcing the proposal that inhibition of LYP activity could be beneficial in human autoimmunity.
|
18981062 |
2009 |
Autoimmune Diseases
|
0.500 |
AlteredExpression
|
group |
BEFREE |
PTPN22, a protein tyrosine phosphatase expressed mainly in hematopoietic cells, has been linked to many autoimmune diseases.
|
23913970 |
2013 |
Autoimmune Diseases
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Overexpression of the autoimmunity-associated phosphatase PTPN22 promotes survival of antigen-stimulated CLL cells by selectively activating AKT.
|
22569400 |
2012 |
Autoimmune Diseases
|
0.500 |
AlteredExpression
|
group |
BEFREE |
PTPN22(-/-) T(regs) were more effective at immunosuppression than were wild-type T(regs), and they suppressed the activity of PTPN22(-/-) effector T cells, preventing autoimmunity.
|
23193160 |
2012 |
Inflammatory Bowel Diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Furthermore, association between inflammation and decreased expression levels of MAGI3, PTEN, and TJP1 in colonic IBD as well as UC mucosa, and between inflammation and increased expression of PTPN22 in colonic IBD mucosa, was observed.
|
28545409 |
2017 |
Inflammatory Bowel Diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Intestinal tissue samples from patients with or without inflammatory bowel disease (controls) were analyzed for levels of PTPN22 messenger RNA (mRNA) and protein.
|
23380085 |
2013 |
Giant Cell Arteritis
|
0.340 |
AlteredExpression
|
disease |
LHGDN |
Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA.
|
16078327 |
2005 |