Crohn Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Gene expression in <i>PTPN2/22</i> in CD subjects was significantly decreased by 2 folds compared to healthy controls (<i>P</i>-values < 0.05).
|
29456405 |
2018 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We hypothesized earlier that Single Nucleotide Polymorphisms (SNPs) in the negative regulators <i>Protein Tyrosine Phosphatase Non-receptor type 2 and 22</i> (<i>PTPN2/22)</i> lead to a dysregulated immune response, susceptibility to environmental triggers, and continued apoptosis as seen in chronic inflammation in RA and CD.
|
29423382 |
2018 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
Crohn Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Non-coding single nucleotide polymorphisms that repress PTPN2 expression have been linked with the development of type 1 diabetes, rheumatoid arthritis and Crohn's disease.
|
27658548 |
2017 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The single nucleotide polymorphism (SNP) rs1893217 within the gene locus encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) results in a dysfunctional PTPN2 protein is associated with Crohn's disease (CD) and exists in perfect linkage disequilibrium with the CD- and ulcerative colitis (UC)-associated PTPN2 SNP rs2542151.
|
26928573 |
2016 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Immunochip analysis identification of 6 additional susceptibility loci for Crohn's disease in Koreans.
|
25489960 |
2015 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data demonstrate that dysfunction of PTPN2 results in aberrant T-cell differentiation and intestinal dysbiosis similar to those observed in human CD.
|
25492475 |
2015 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PTPN2 gene mutation in T1D patients play a direct role in the destruction of beta cells while in Crohn's disease patients, it modulates the innate immune responses.
|
26734582 |
2015 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15.
|
25489960 |
2015 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Though several polymorphisms have been identified in PTPN2, their roles in the incidence of UC and CD are conflicting.
|
24127071 |
2014 |
Crohn Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In stage 3 we studied the relationship between PTPN2 protein expression and mucosal inflammation and carried out in silico analyses to study the functional characteristics of the PTPN2 CD-associated SNPs.
|
23518806 |
2013 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel association between the genetic variant, rs1893217, located in intron 7 of the PTPN2 gene and CD.
|
22021207 |
2012 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recent studies associated variants within the gene loci, encoding protein tyrosine phosphatase nonreceptor type 2 (PTPN2), and autophagy genes, such as autophagy-related 16-like 1 (ATG16L1), with chronic inflammatory disorders, such as Crohn's disease (CD).
|
21987459 |
2012 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data identify an important functional role for PTPN2 as a protector of the intestinal epithelial barrier and provide clues as to how PTPN2 mutations may contribute to the pathophysiology of CD.
|
22671596 |
2012 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC.
|
22457781 |
2012 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results suggest that PTPN2 may have an important role in CD pathogenesis and may represent a potential diagnostic and therapeutic target for IBD.
|
22377701 |
2012 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.
|
22426692 |
2012 |
Crohn Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Though samples from patients with active ulcerative colitis (UC) revealed more PTPN2 protein than non-IBD patients and patients with UC in remission, their PTPN2 expression was lower than in active CD.
|
21115548 |
2011 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated.
|
21830272 |
2011 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SNPs tagging the TNFSF15, NKX2-3, ZNF365, and PTPN2 genes were associated with CD (P values ranging from 0.037 to 7×10(-6)).
|
21818367 |
2011 |
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.
|
21298027 |
2011 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Notable genes with VDR binding included IRF8, associated with MS, and PTPN2 associated with Crohn's disease and T1D.
|
20736230 |
2010 |
Crohn Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this sample, we were able to confirm an association between CD and PTPN2 (genotypic P = 0.019 and allelic P = 0.011), and phenotypic analysis showed an association of this SNP with late age at first diagnosis, inflammatory and penetrating CD behaviour, requirement of bowel resection and being a smoker at diagnosis.
|
20403149 |
2010 |