|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The C1858T polymorphism in PTPN22 has been associated with the risk of systemic lupus erythematosus (SLE) as well as multiple other autoimmune diseases.
|
18759295 |
2008 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The results indicate that the LYP missense R620W polymorphism may have an influence on the development of generalised vitiligo and provide further evidence for autoimmunity as an aetiological factor with respect to this disease.
|
16015369 |
2005 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Whereas the HLA-DR3/4,DQB1*0302 genotype had a dramatic influence on both development of islet autoimmunity and progression to type 1 diabetes, the PTPN22(R620W) T allele significantly influences progression to persistent islet autoimmunity in the DAISY cohort.
|
19188433 |
2009 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
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
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now been conclusively shown to confer approximately two-fold risk for seropositive RA as well as several other autoimmune disorders.
|
15790351 |
2005 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases.
|
16112033 |
2005 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease.
|
18305142 |
2008 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, C1858T polymorphism of PTPN22, another candidate gene of autoimmunity seems to be independent of JIA in Hungarian patients.
|
19210888 |
2009 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A C1858T single nucleotide polymorphism within PTPN22 (which encodes PTPN22<sup>R620W</sup>) is associated with an enhanced susceptibility to multiple autoimmune diseases including type 1 diabetes and rheumatoid arthritis.
|
30139951 |
2018 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
An elevated PTPN22 1858C/T genotype frequency has been correlated with several autoimmune disorders which have T-cell and humoral components.
|
21585555 |
2011 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA).
|
17553139 |
2007 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene encoding the lymphoid-specific tyrosine phosphatase, which is known to be associated with various autoimmune diseases, also confers increased risk for PS in the genetic homogeneous population of Crete.
|
20039785 |
2010 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The functional but geographically highly variable PTPN22 single-nucleotide polymorphisms (SNPs), particularly c.1858C>T, contribute to the onset and progression of autoimmunity-associated diseases and facilitate the expression of disease-associated autoantibodies.
|
25896041 |
2015 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
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
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA).
|
17000021 |
2007 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene, PTPN22, has been associated with multiple autoimmune diseases, including rheumatoid arthritis (RA).
|
16175503 |
2005 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
<i>PTPN22</i> is described as the hallmark autoimmunity gene, and one specific single nucleotide polymorphism (SNP), rs2476601, is associated with multiple autoimmune diseases, impaired T cell regulation, and autoantibody formation.
|
30705675 |
2018 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The PTPN22 1858T allele of SNP rs2476601 is significantly associated both with generalized vitiligo and with an expanded autoimmunity phenotype.
|
18200060 |
2008 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The 1858C/T SNP of the PTPN22 gene has been associated with many autoimmune diseases, suggesting the existence of an inflammatory process common to all of them.
|
16539704 |
2006 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
No association was found between C1858T polymorphism and diabetes-related autoimmunity (p = 0.173) or thyroid autoimmune disease (p = 0.321), respectively.
|
20438787 |
2010 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases.
|
29666305 |
2018 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata.
|
23570882 |
2013 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
The c.1858C>T polymorphism of the PTPN22 gene, which codes a protein tyrosine phosphatase important in lymphocyte activation, predisposes to a number of autoimmune diseases.
|
27866840 |
2017 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Endometriosis has been suggested to be an autoimmune disease and recently, an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity.
|
20070289 |
2010 |