|
rs2488457
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study shows for the first time a marked down-regulation of PTPN22 expression in RA patients carrying the risk alleles of PTPN22 rs2488457 and rs2476601 compared to controls (p = 0.004 and p = 0.007, respectively).
|
28874816 |
2017 |
|
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 |
|
rs3789604
|
RSBN1;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.020 |
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 |
|
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 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.040 |
GeneticVariation |
BEFREE |
PTPN22 +788 G>A (R263Q) Polymorphism is Associated with mRNA Expression but it is not a Susceptibility Marker for Rheumatoid Arthritis Patients from Western Mexico.
|
30637604 |
2019 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.040 |
GeneticVariation |
BEFREE |
Moreover, this is the second report documenting the association of PTPN22 R263Q with protection against SLE and RA.
|
28500376 |
2017 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.040 |
GeneticVariation |
BEFREE |
In this study, we analyzed the relative PTPN22 and CSK expression in peripheral blood from 89 RA patients and 43 controls to determine if the most relevant PTPN22 (rs2488457, rs2476601 and rs33996649) and CSK (rs34933034 and rs1378942) polymorphisms may influence on PTPN22 and CSK expression in RA.
|
28874816 |
2017 |
|
rs33996649
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings indicate that the minor allele of the PTPN22 R263Q polymorphism is associated with a lower risk of RA.
|
21279993 |
2011 |
|
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 |
|
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 |
|
rs7529353
|
BCL2L15;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 |
|
rs6665194
|
AP4B1-AS1
|
Rheumatoid Arthritis
|
|
0.710 |
GeneticVariation |
BEFREE |
We also propose rs6665194 to be a promising candidate for RA risk evaluation between ethnicities.
|
28653215 |
2017 |
|
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 |
|
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 |
|
rs6665194
|
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 |
|
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 |
Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis.
|
30899276 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
PTPN22 rs2476601 polymorphism frequency was higher in RA and UA vs the general population; however, this was significantly different only for RA vs control group (OR [95% CI] = 1.81 [1.10-3.02], P = 0.018.
|
30306282 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
A |
1.000 |
GeneticVariation |
GWASCAT |
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
|
30423114 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
BEFREE |
Results showed that 1858 C/T PTPN22 SNP significantly (P = 0.007, OR = 2.321, 95% CI = 1.063-5.067) associated with RA.
|
31669381 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
A |
1.000 |
GeneticVariation |
GWASCAT |
Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.
|
30891314 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
rs2476601
|
PTPN22;AP4B1-AS1
|
Rheumatoid Arthritis
|
|
1.000 |
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 |