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DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
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0.700 |
SusceptibilityMutation
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CLINVAR |
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Autoimmune Diseases
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0.020 |
GeneticVariation
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BEFREE |
Its promoter gene variant (rs2488457, -1123G>C) has been reported to be associated with autoimmune diseases.
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23025987 |
2013 |
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Autoimmune Diseases
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0.020 |
GeneticVariation
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BEFREE |
The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases.
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22396730 |
2012 |
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Ankylosing spondylitis
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0.010 |
GeneticVariation
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BEFREE |
RESULTS The present meta-analysis showed a positive correlation of both PTPN22 rs2488457</span> and rs1217414 polymorphisms with AS risk under CC vs. GG, CC + GC vs. GG, CC vs. GC + GG, allele C vs. allele G (OR=1.39, 95% CI=1.04-1.85, P=0.646; OR=1.29, 95% CI=1.03-1.62, P=0.426; OR=1.26, 95% CI=1.02-1.56, P=0.971; OR=1.20, 95% CI=1.05-1.38, P=0.571), and TT vs. CC and TT vs. CT + CC models (OR=3.83, 95% CI=1.11-13.24, P=0.196; OR=3.83, 95% CI=1.09-13.42, P=0.244), respectively.
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28555069 |
2017 |
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Rheumatoid Arthritis
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0.010 |
GeneticVariation
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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).
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28874816 |
2017 |
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Juvenile arthritis
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0.010 |
GeneticVariation
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BEFREE |
Our data strengthen STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms as susceptibility factors for JIA.
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25781893 |
2015 |
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Juvenile rheumatoid arthritis
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0.010 |
GeneticVariation
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BEFREE |
STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.
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25781893 |
2015 |
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Uveomeningoencephalitic Syndrome
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0.010 |
GeneticVariation
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BEFREE |
The results showed significantly increased frequencies of the rs2488457 CC genotype and C allele but a decreased frequency of the GG genotype in VKH syndrome patients (PBonferroni correction (Pc) = 3.47×10(-7), OR = 1.54; Pc = 3.83×10(-8), OR = 1.40; Pc = 6.35×10(-4), OR = 0.62; respectively).
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24816862 |
2014 |
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Ulcerative Colitis
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0.010 |
GeneticVariation
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BEFREE |
Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis.
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23456301 |
2013 |
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Behcet Syndrome
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0.010 |
GeneticVariation
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BEFREE |
The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases.
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22396730 |
2012 |
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Myasthenias
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0.010 |
GeneticVariation
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BEFREE |
On the other hand, while rs2488457 was not associated with myasthenia or thymus pathology, we found a correlation of rs2488457 with low autoantibody titers and a trend of association with a less severe disease.
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22197427 |
2012 |
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Diabetes Mellitus, Insulin-Dependent
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0.010 |
GeneticVariation
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BEFREE |
The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin.
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17000021 |
2007 |