|
rs1310182
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases.
|
22396730 |
2012 |
|
rs2488457
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Its promoter gene variant (rs2488457, -1123G>C) has been reported to be associated with autoimmune diseases.
|
23025987 |
2013 |
|
rs2488457
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases.
|
22396730 |
2012 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD.
|
30470857 |
2019 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
This meta-analysis demonstrates that the PTPN22 G788A polymorphism confers protection against SLE, RA, and UC, supporting evidence of association of the PTPN22 gene with a subgroup of autoimmune diseases.
|
29729713 |
2018 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
However, the PTPN22 R263Q polymorphism (rs33996649) has been scarcely explored in different ADs.
|
28500376 |
2017 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
Two well-known CSK (CSK rs34933034 and CSK rs1378942) and two functional PTPN22 (PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q)) polymorphisms, previously associated with autoimmunity, were genotyped with TaqMan single nucleotide polymorphism (SNP) genotyping assays.
|
26458874 |
2015 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders.
|
23559857 |
2013 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.060 |
GeneticVariation |
BEFREE |
Two functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity.
|
21131644 |
2011 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
Genome-wide association studies have linked single-nucleotide polymorphisms in the phosphatases <i>PTPN22</i> (rs2476601) and <i>PTPN2</i> (rs1893217) to increased risk for multiple autoimmune diseases.
|
31722988 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach.
|
30871019 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD.
|
30470857 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
Results set-up the stage for ultimate trials in the treatment of autoimmunity based on the specific inhibitory targeting of C1858T PTPN22 by lipoplexes.
|
30439564 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
PTPN22 C1858T mutation encoding for the R620W lymphoid tyrosine phosphatase variant, plays a potential pathophysiological role in autoimmunity.
|
28437437 |
2017 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
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
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
The functional PTPN22 R620W polymorphism (rs2476601) is clearly associated with susceptibility to several autoimmune diseases (ADs).
|
28500376 |
2017 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Autoimmune Diseases
|
|
0.900 |
GeneticVariation |
BEFREE |
The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.
|
28375784 |
2017 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
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 |