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 |
Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies.
|
31808541 |
2019 |
rs2476601
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|
1.000 |
GeneticVariation |
BEFREE |
The aim of this meta-analysis was to determine the association of common type 1 diabetes (T1D) and type 2 diabetes (T2D) gene variants (protein tyrosine phosphatase non-receptor 22 [PTPN22] rs2476601C/T, insulin [INS] rs689A/T and transcription factor 7-like 2 [TCF7L2] rs7903146C/T) with latent autoimmune diabetes in adults (LADA).
|
30456822 |
2019 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
We examined <i>PTPN22</i> rs2476601 (p.Arg620Trp), <i>NLRP3</i> rs35829419 (p.Gln705Lys), and <i>CARD8</i> rs2043211 (p.Cys10Ter) in 66 subjects with coexisting T1D and CD, 65 subjects with T1D who did not develop CD, 67 subjects diagnosed only with CD and 127 healthy unrelated Slovenian individuals.
|
30915320 |
2019 |
rs2476601
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|
1.000 |
GeneticVariation |
BEFREE |
The data presented here suggests that the T allele of PTPN-22 C1858T polymorphism might be a risk factor for T1D development in Saudi children.
|
29611765 |
2018 |
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 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 |
The aim of this study is to define the frequency of the C1858T polymorphism in the PTPN22 gene in a cohort of 113 Caucasian patients (58 males and 55 females) with T1D, and to assess a possible correlation with a group of clinically relevant variables: age at onset, gender, diabetes-related autoantibodies, residual β-cell function and daily insulin requirement (IR) 6 months after diagnosis.
|
26902538 |
2017 |
rs2476601
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|
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 |
The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.
|
28375784 |
2017 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Genotyping in 3,609 T1D families showed that rs56048322 was significantly associated with T1D and that this association was independent of the T1D-associated common variant rs2476601.
|
26631741 |
2016 |
rs2476601
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|
1.000 |
GeneticVariation |
BEFREE |
The resulting Ptpn22(R619W) mice showed increased insulin autoantibodies and earlier onset and higher penetrance of T1D.
|
27207523 |
2016 |
rs2476601
|
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|
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
|
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|
1.000 |
GeneticVariation |
BEFREE |
These SNPs were also significantly associated with T1D in particular: rs2476601 (HR 2.42 [95% CI 1.70-3.44]).
|
25422107 |
2015 |
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
We found that the TT +TC genotype and the T allele of C1858T were more frequent in T1DM patients (19.40 and 10.0%, respectively) than in healthy subjects (7.51 and 4.0%, respectively), and the difference was significant (both P < 0.001).
|
25729936 |
2015 |
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
|
|
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The PTPN22 C1858T is not relevant in susceptibility to T1D in the Azeri population of Northwest Iran.
|
25243643 |
2015 |
rs2476601
|
|
|
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
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|
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
|
|
|
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Preserved proinsulin production in homozygous protein tyrosine phosphatase nonreceptor type 22 C1858T variant type 1 diabetes: a possible explanation for absence of overt ketoacidosis despite omission of exogenous insulin.
|
23337153 |
2014 |
rs2476601
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|
1.000 |
GeneticVariation |
BEFREE |
There was no association between the single nucleotide polymorphism 1858C>T and Type 1 diabetes in our studied cohort.
|
24117662 |
2014 |
rs2476601
|
|
|
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
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|
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 |