rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.
|
16322396 |
2005 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R620W) in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis.
|
15719322 |
2005 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The resulting Ptpn22(R619W) mice showed increased insulin autoantibodies and earlier onset and higher penetrance of T1D.
|
27207523 |
2016 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
When considering rs2476601 'C' founder chromosomes, a second haplotype (AGGGGC) centromeric of PTPN22 in the C1orf178 region was associated with protection from T1D (odds ratio=0.81, P=0.0005).
|
19956096 |
2009 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
In contrast to previous reports, we found no evidence for an alteration of the B cell compartment in healthy individuals homozygous for the non-synonymous PTPN22 Trp(620) T1D risk allele (rs2476601; Arg(620) Trp).
|
24773525 |
2014 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
Polymorphisms in the TNF-α(rs1800629), CTLA-4 (rs231775), and PTPN22 (rs2476601) genes have been previous associated with T1D; however, there is no consensus regarding their role in T1D and scarce literature focusing on AIDT and/or CD.
|
26782543 |
2015 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles; for INS and protein tyrosine phosphatase, non-receptor type 22 gene polymorphisms (rs689 and rs2476601); and for diabetes-associated autoantibodies.
|
25256132 |
2015 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo.
|
16464986 |
2006 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We have genotyped 396 type 1 diabetic patients and 1,178 control subjects of Caucasian descent from north central Florida and report a strong association between type 1 diabetes and a polymorphism (R620W) in the PTPN22 gene.
|
15734872 |
2005 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis.
|
20445565 |
2010 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The aim of this study has been to investigate the possible association of 1858C-->T PTPN22 polymorphism and type 1 diabetes (T1D) in Caucasians from Ukraine.
|
16671953 |
2006 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
PTPN22 rs2476601 is associated with JIA and numerous other autoimmune diseases, and has been reported to show female-specific association with type 1 diabetes.
|
26291515 |
2015 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02).
|
26485223 |
2015 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with elevated T1D risk among Caucasian population.
|
23291413 |
2013 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians.
|
19815302 |
2009 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
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
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We investigated whether the PTPN22 C1858T polymorphism is associated with the autoimmune conditions present in the family of a child affected by type 1 diabetes (T1D) carrying the TT genotype (index patient) and the potential immunological effect of the variant.
|
22809281 |
2013 |
rs2476601
|
|
Diabetes Mellitus, Insulin-Dependent
|
|
1.000 |
GeneticVariation
|
BEFREE |
We found a significant association between PTPN22 1858 C/T SNP and T1D and GD.
|
21467606 |
2011 |