|
rs1217393
|
AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
rs1217407
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.700 |
GeneticVariation |
GWASDB |
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
|
19503088 |
2009 |
|
rs1217413
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.700 |
GeneticVariation |
GWASDB |
Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis.
|
17159887 |
2007 |
|
rs1217418
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.700 |
GeneticVariation |
GWASDB |
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
|
19503088 |
2009 |
|
rs12566340
|
BCL2L15;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.710 |
GeneticVariation |
GWASDB |
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
|
19503088 |
2009 |
|
rs12566340
|
BCL2L15;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.710 |
GeneticVariation |
BEFREE |
We, therefore, tested rs12566340 for association with RA conditional on rs2476601; there was no evidence for an independent effect at rs12566340 (P = 0.76).
|
20975833 |
2010 |
|
rs1310182
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared the allele frequencies of five haplotype-tagging SNPs in the PTPN22 gene, 2 of which are reportedly associated with RA in Caucasians (rs3789604 and rs1310182), and compared haplotype distributions between 184 Japanese T1D patients and 179 healthy controls. rs3789604 was not associated with T1D in our Japanese subjects.
|
20510318 |
2010 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 and the PTPN22 rs2476601 polymorphisms have all been linked with an increased risk of developing rheumatoid arthritis.
|
22937072 |
2012 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Here we aimed to examine the associations of the PTPN22 R620W and R263Q polymorphisms with susceptibility to or protection against rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD) among Mexican patients.
|
28500376 |
2017 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
The B cells percentage and mCD40 expression were similar between RA and CS (P > 0.05) and we did not find an association between these variables and the 1858C>T polymorphism.
|
30402903 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
In conclusion, this meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with RA susceptibility in different ethnic groups, especially in Europeans, and the PTPN22 C1858T polymorphism T allele is significantly more prevalent in RF-positive patents than in RF-negative patients.
|
21706348 |
2012 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in the protein, and is the most important non-HLA genetic risk factor for rheumatoid arthritis and the second most important for juvenile idiopathic arthritis.
|
25003765 |
2014 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
RNA was extracted from positively selected CD56+, CD8+, and CD4+ mononuclear cells and the 'residual' cells from 12 RA patients heterozygous for the PTPN22 C1858T single nucleotide polymorphism (SNP) (rs2476601).
|
22632125 |
2012 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Our data not only establish a molecular link between PTPN22 and PAD-4, but also suggest that the C1858T SNP increases the risk of RA by enhancing protein citrullination and spontaneous formation of NETs.
|
26019128 |
2015 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
We also found PTPN22 rs2476601 has no role in susceptibility to RA in Egyptian patients.
|
28424905 |
2017 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
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
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoantibody status and radiological erosions in rheumatoid arthritis.
|
23637320 |
2013 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
GWASDB |
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
|
21156761 |
2011 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Anti-citrullinated peptide antibodies (ACPA) and the C1858T missense single-nucleotide polymorphism (SNP) in the PTPN22 gene are both associated with the development of rheumatoid arthritis (RA).
|
17341507 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
To analyse the relationship between the presence of auto-antibodies [rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP)], HLA-DRB1 alleles and PTPN22 1858 C/T polymorphism and test the value of their combination as susceptibility markers for rheumatoid arthritis (RA).
|
18156150 |
2008 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
GWASCAT |
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
|
24449572 |
2014 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
However, our meta-analysis confirms that the PTPN22 1858C/T</span> polymorphism is associated with RA susceptibility in Caucasians.
|
26763276 |
2016 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
However, we were able to replicate the association signals between RA and HLA-DRB1 alleles, STAT4 (rs7574865), PTPN22 (rs2476601) and OLIG3/TNFAIP3 (rs10499194 and rs6920220).
|
19445664 |
2009 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A allele of PTPN22 R620W was seen in all three studies regarding anti-CCP-positive RA.
|
17436241 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
GWASCAT |
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
|
17804836 |
2007 |