|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
UNIPROT |
|
|
|
|
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 |
Additional analyses identified two SNPs on a single common haplotype that are associated with RA independent of R620W, suggesting that R620W and at least one additional variant in the PTPN22 gene region influence RA susceptibility.
|
16175503 |
2005 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.
|
15986374 |
2005 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).
|
15641066 |
2005 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
There was a strong dose effect on disease risk; two copies of the PTPN22 R620W allele more than doubles the risk for RF positive RA (OR=4.57, 95% CI 2.35-8.89).
|
15674368 |
2005 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo.
|
16893384 |
2006 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
PTPN22 has emerged strongly as a genuine rheumatoid arthritis susceptibility gene with replications of the association to the R620W single nucleotide polymorphism.
|
16462519 |
2006 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently reported to be associated with several autoimmune diseases including rheumatoid arthritis</span> (RA).
|
16690758 |
2006 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype.
|
16490755 |
2006 |
|
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 |
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 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
To compare the distribution and assess genetic associations of the PTPN22 R620W single-nucleotide polymorphism among South Asian (Asiatic Indian) patients with rheumatoid arthritis (RA) and ethnically matched controls.
|
17696275 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material.
|
17661906 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
We investigated whether polymorphism 1858C>T in PTPN22 gene is associated with susceptibility to allergic asthma and RA in a Polish population.
|
17579671 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Having previously reported significant association of the T allele of rs2476601 in a Graves' disease (GD) cohort, we sought to determine whether novel rheumatoid arthritis-associated SNPs were also contributing to susceptibility to GD.
|
17148556 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
We conclude that C1858T is the sole PTPN22 variant predisposing to RA in our white Dutch sample set.
|
17135225 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
GWASDB |
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
|
17804836 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene.
|
17170052 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
A longitudinally followed cohort of 238 Norwegian patients with RA (the EURIDISS cohort) was genotyped for the PTPN22 1858C-->T polymorphism.
|
17472988 |
2007 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA).
|
17553139 |
2007 |
|
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 |
|
rs3789604
|
RSBN1;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation |
BEFREE |
No significant association of the haplotype tagged by the 3' PTPN22 SNP, rs3789604, with RA susceptibility (P = 0.134) was observed in our sample set.
|
17135225 |
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 |