|
rs2476601
|
|
|
1.000 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
C1858T Polymorphism of Protein Tyrosine Phosphatase Non-receptor Type 22 (PTPN22): an eligible target for prevention of type 1 diabetes?
|
27892782 |
2017 |
|
rs2476601
|
|
|
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 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A coding variant in PTPN22 (C1858T) is one of the most important genetic risk factors in type 1 diabetes (T1D).
|
31732921 |
2020 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families.
|
15526003 |
2004 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases.
|
15759012 |
2005 |
|
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
|
17632545 |
2007 |
|
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASDB |
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
|
17632545 |
2007 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
GWASDB |
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
|
21980299 |
2011 |
|
rs2476601
|
|
|
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
|
|
|
1.000 |
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A significant association was detected between the variant genotype of the PTPN22 gene (C1858T, rs2476601) and T1DM in Kuwaiti Arabs.
|
29924845 |
2018 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in Caucasian populations, but the variant was absent in Asian populations including Japanese.
|
17130532 |
2006 |
|
rs2476601
|
|
|
1.000 |
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Across all populations, significant associations were found between the PTPN22 C1858T polymorphism and susceptibility to T1D under genotypic (TT vs. CC [OR = 3.656, 95% CI: 3.139-4.257], CT vs. CC [OR = 1.968, 95% CI: 1.683-2.300]), recessive (OR = 3.147, 95% CI: 2.704-3.663), and dominant models (OR = 1.957, 95% CI: 1.817-2.108).
|
23438410 |
2013 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
After stratification by ethnicity, analysis revealed that the PTPN22 C1858T</span> polymorphism T allele was significantly associated with T1D in Europeans, Americans (OR = 1.946, 95% CI = 1.852~2.045, P < 0.001; OR = 1.946, 95% CI = 1.690~2.242, P < 0.001, respectively).
|
22429252 |
2012 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Altered B cell homeostasis and toll-like receptor 9-driven response in type 1 diabetes carriers of the C1858T PTPN22 allelic variant: implications in the disease pathogenesis.
|
25333705 |
2014 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.
|
18179648 |
2008 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians.
|
19815302 |
2009 |
|
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASCAT |
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
|
25751624 |
2015 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Fourth, at PTPN22, there was evidence for a novel contribution to T1D risk, independent of the replicated effect of the R620W variant.
|
19956109 |
2009 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
G(-1123)C and C1858T were in linkage disequilibrium (D' = 0.98; r(2) =0.61 in T1DM and D' = 0.97; r(2) =0.41 in controls).
|
20518841 |
2010 |
|
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASCAT |
Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.
|
25936594 |
2015 |
|
rs2476601
|
|
A |
1.000 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|
21829393 |
2011 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
GWASCAT |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
|
19430480 |
2009 |