|
rs2476601
|
|
|
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
|
|
|
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 |
The single nucleotide polymorphism (SNP) C1858T within the PTPN22 gene was recently associated with autoimmune thyroid disease (AITD) and type I diabetes (T1D).
|
19090780 |
2009 |
|
rs2476601
|
|
|
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease.
|
18305142 |
2008 |
|
rs2476601
|
|
|
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
|
|
|
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
|
|
|
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 |
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo.
|
16893384 |
2006 |
|
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
|
|
|
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
|
|
|
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 |
The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.
|
23359562 |
2013 |
|
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
We set out to analyze the role of two major non-HLA gene polymorphisms associated with type 1 diabetes (T1D), PTPN22 1858C/T and insulin gene INS-23 A/T in progression to clinical T1D after the appearance of β-cell autoimmunity.
|
22357962 |
2012 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
In this study, a set of 341 white, multiplex T1D families were genotyped for the C1858T single nucleotide polymorphism of PTPN22, and transmission disequilibrium test analysis revealed significant association (p = 0.005) of the T allele with T1D.
|
15620463 |
2005 |
|
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 |
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
|
|
|
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 |
These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes in the PTPN22 locus, but they suggest that additional infrequent coding variants at PTPN22 may also contribute to type 1 diabetes risk.
|
17003357 |
2006 |
|
rs2476601
|
|
|
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 |
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population.
|
17697317 |
2007 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
The T allele of the C1858T variant is positively associated with proinsulin levels during the first 12 months in newly diagnosed type 1 diabetes children.
|
21429197 |
2011 |
|
rs2476601
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.
|
18179648 |
2008 |