|
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 |
C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity.
|
22704547 |
2012 |
|
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 |
A coding polymorphism (R620W) in PTPN22 imparts elevated risk for human infection and autoimmune disease, predisposes to diminished innate immune responses, and associates with reduced immunization responses.
|
28723925 |
2017 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common polymorphism (C1858T) in the gene that encodes the protein tyrosine phosphatase non-receptor type 22 (PTPN22) is associated with altered T-cell responses and increased susceptibility to rheumatoid arthritis (RA) and other autoimmune diseases.
|
25040563 |
2014 |
|
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 |
A gain-of-function R620W polymorphism in the PTPN22 gene, encoding the lymphoid tyrosine phosphatase LYP, has recently emerged as an important risk factor for human autoimmunity.
|
18981062 |
2009 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A genetic variant of the leukocyte phosphatase PTPN22 (R620W) is strongly associated with autoimmune diseases including rheumatoid arthritis (RA).
|
24665115 |
2015 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A missense C1858T single nucleotide polymorphism within PTPN22 is a strong genetic risk factor for the development of multiple autoimmune diseases.
|
30054208 |
2018 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A missense mutation changing residue 1858 from cytosine to thymidine (1858C/T) is associated with multiple autoimmune disorders.
|
19265110 |
2009 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
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 (RA).
|
16690758 |
2006 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A missense single nucleotide polymorphism (SNP) (rs2476601) in PTPN22 has been linked to numerous autoimmune diseases in Caucasians.
|
27406031 |
2016 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PTPN22) gene leading to Arg 620 Trp substitution is known to be associated with susceptibility to type 1 diabetes (T1D) and several other autoimmune diseases.
|
24913133 |
2014 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A single-nucleotide polymorphism (SNP) C1858T located on this gene has been associated with autoimmune diseases and bacterial infections.
|
19115939 |
2008 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Caucasians, but the variant was absent in Asians.
|
17452059 |
2007 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.
|
15759012 |
2005 |
|
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 |
Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis.
|
16385499 |
2006 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach.
|
30871019 |
2019 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Because a functional PTPN22 polymorphism, C1858T, has been found to be associated with different autoimmune diseases, we aimed to elucidate the role of this variant in predisposition to achalasia.
|
17961776 |
2007 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Considering that previous studies in other populations reported the T allele as the risk allele at this locus, the present study concluded that rs2476601 play no role in susceptibility to RA and other autoimmune diseases in Iranian population.
|
26547712 |
2015 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Considering the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620 variant and the complexity by which this variant influences immunologic tolerance, the objective of this study was to ascertain if the allele-specific expression of the disease-associated Arg620Trp polymorphism is affected by cis-acting or sex-specific trans-acting factor/s (e.g. sex-hormones).
|
17230194 |
2007 |
|
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 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
For Caucasian females, PTPN22 SNP rs2476601 was significantly associated with autoimmune disease by allelic association tests (OR = 1.99, [1.30-3.04]).
|
31759816 |
2019 |
|
rs2476601
|
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation
|
BEFREE |
Further analysis revealed a clear distinction between the two groups of diseases with regard to their targeted tissues: most autoimmune diseases showing an insignificant association with PTPN22 C1858T manifest in skin, the gastrointestinal tract or in immune privileged sites.
|
23076337 |
2012 |