Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE The association between rs2476601 and JIA appears restricted to females, partly accounting for the predominance of females with this disease. 26291515

2015

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.34, P = 0.03; OR = 1.97, P = 0.02) but did not reveal the association between the PTPN22 C1858T polymorphism and IBD, psoriasis, multiple sclerosis, Addison's disease and Celiac disease. 16760194

2007

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. 15759012

2005

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). 17000021

2007

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE Associations of STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations. 25781893

2015

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE However, C1858T polymorphism of PTPN22, another candidate gene of autoimmunity seems to be independent of JIA in Hungarian patients. 19210888

2009

dbSNP: rs2476601
rs2476601
0.090 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

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in the protein, and is the most important non-HLA genetic risk factor for rheumatoid arthritis and the second most important for juvenile idiopathic arthritis. 25003765

2014

dbSNP: rs2476601
rs2476601
0.090 GeneticVariation BEFREE This meta-analysis confirms that the PTPN22 1858 C/T polymorphism is associated with JIA susceptibility in Europeans and shows that the MIF -173 C/G polymorphism may be associated with susceptibility to JIA. 22327470

2012

dbSNP: rs1217691063
rs1217691063
0.030 GeneticVariation BEFREE To study the relationship of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene to toxicity and efficacy of methotrexate (MTX) in patients with juvenile idiopathic arthritis (JIA). 16142884

2005

dbSNP: rs1217691063
rs1217691063
0.030 GeneticVariation BEFREE C677T (rs1801133) polymorphism in MTHFR predicts nonresponse and/or adverse effects of MTX treatment in JIA patients. 29589488

2018

dbSNP: rs1217691063
rs1217691063
0.030 GeneticVariation BEFREE To investigate whether methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and erythrocyte concentration of methotrexate (EMTX) could serve as predictors of methotrexate (MTX) efficacy and toxicity in patients with juvenile idiopathic arthritis (JIA). 20595278

2010

dbSNP: rs2004640
rs2004640
0.020 GeneticVariation BEFREE The SNP rs2004640 was significantly associated with SLE, MS, and SSc, but not with JIA [odds ratio (OR)=1.06, 95% confidence interval (CI)=0.90-1.24, P=0.48] or RA (OR=1.03, 95%CI=0.95-1.11, P=0.44). 25036352

2014

dbSNP: rs2004640
rs2004640
0.020 GeneticVariation BEFREE The frequency of the IRF5 rs2004640 T allele was significantly higher (69 vs 45%, P value = 0.0013) in JIA group as compared to control. 29423720

2018

dbSNP: rs30187
rs30187
0.020 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) in ERAP1 (rs30187) and IL23R (rs11209026) were genotyped in JIA cases (n = 1,054) and healthy controls (n = 5,200). 21281511

2011

dbSNP: rs30187
rs30187
0.020 GeneticVariation BEFREE ERAP1 rs30187 SNP was shown to confer risk in the enthesitis-related arthritis (ERA) category of JIA. 28161768

2017

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE To investigate whether methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and erythrocyte concentration of methotrexate (EMTX) could serve as predictors of methotrexate (MTX) efficacy and toxicity in patients with juvenile idiopathic arthritis (JIA). 20595278

2010

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE To study the relationship of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene to toxicity and efficacy of methotrexate (MTX) in patients with juvenile idiopathic arthritis (JIA). 16142884

2005

dbSNP: rs4986790
rs4986790
0.020 GeneticVariation BEFREE SNP of TLR2, NLRP3, and TLR4 (Asp299Gly) were not associated with jSpA or JIA. 25920454

2015

dbSNP: rs4986790
rs4986790
0.020 GeneticVariation BEFREE No linkage or association was seen for Asp299Gly or Thr399Ile SNPs of TLR4 with JIA susceptibility. 15498795

2005

dbSNP: rs4986791
rs4986791
0.020 GeneticVariation BEFREE Statistically significant difference in genotype frequency for Thr399Ile SNP of TLR4 was observed in the jSpA (χ2 = 6.705, p = 0.035) and not in the JIA group (χ2 = 3005, p = 0.223). 25920454

2015

dbSNP: rs4986791
rs4986791
0.020 GeneticVariation BEFREE No linkage or association was seen for Asp299Gly or Thr399Ile SNPs of TLR4 with JIA susceptibility. 15498795

2005

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE Our data strengthen STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms as susceptibility factors for JIA. 25781893

2015

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE Our meta-analysis revealed that the STAT4 rs7574865 polymorphism is associated with four autoimmune diseases with systemic pathology, including systemic lupus erythematosus (OR = 1.52; 95% CI = 1.48 - 1.56, P<1.0 × 10(-16)), rheumatoid arthritis (OR = 1.27; 95% CI = 1.21 - 1.33, P < 1.00 × 10(-16)), systemic sclerosis (OR = 1.38; 95% CI = 1.27 - 1.50, P < 1.44 × 10(-14)), and primary Sjogren's syndrome (OR = 1.32; 95% CI = 1.01 - 1.73, P = 4.40 × 10(-2)), while no association was found with type I diabetes, juvenile idiopathic arthritis, ulcerative colitis and Crohn's disease. 23628400

2013

dbSNP: rs1003706636
rs1003706636
0.010 GeneticVariation BEFREE Statistically significant difference in genotype frequency for Thr399Ile SNP of TLR4 was observed in the jSpA (χ2 = 6.705, p = 0.035) and not in the JIA group (χ2 = 3005, p = 0.223). 25920454

2015