Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Our preliminary study suggest that PTPN22:c.1858C>T gene polymorphism may be associated with a predisposition to GD within the adult north-eastern Polish population. 30938100

2019

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Our data provide the first demonstration that PTPN22 R620W confers GD susceptibility among Latin-American patients. 28500376

2017

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The C1858T polymorphism of the PTNP22 gene reduces the expression of its encoded LYP, which increases the risk of GD and HT. 28133421

2017

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Single-nucleotide polymorphism (SNP) rs2476601 in PTPN22 is the susceptibility loci of GD in the European population. 24386393

2013

dbSNP: rs2476601
rs2476601
A 0.900 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE (3) regarding the subtypes of AITDs, patients with Graves' disease (GD) had a significant higher degree of C1858T polymorphism (TT vs. CC, OR=2.35, 95%CI=1.36˜4.05; TC vs. CC, OR=1.46, 95%CI=1.12˜1.89; TT/TC vs. CC, OR=1.54, 95%CI=1.33˜1.80; TT vs. TC/CC, OR=2.16, 95%CI=1.25˜3.72), while no association was observed in patients with Hashimoto's thyroiditis (HT).No publication bias was observed. 22374238

2012

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation GWASDB Seven newly identified loci for autoimmune thyroid disease. 22922229

2012

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 21467606

2011

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene known as R620W (rs2476601) was recently reported to be associated with several autoimmune diseases including Graves' disease (GD). 20615141

2010

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05). 19343596

2009

dbSNP: rs2476601
rs2476601
0.900 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

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been implicated in the risk to several autoimmune disorders, including type 1 diabetes, Graves' disease, rheumatoid arthritis and systemic lupus erythematosus. 18194365

2008

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Having previously reported significant association of the T allele of rs2476601 in a Graves' disease (GD) cohort, we sought to determine whether novel rheumatoid arthritis-associated SNPs were also contributing to susceptibility to GD. 17148556

2007

dbSNP: rs2476601
rs2476601
0.900 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

dbSNP: rs2476601
rs2476601
0.900 GeneticVariation BEFREE Recently, two studies on British Caucasians reported that a single nucleotide polymorphism, 1858 C > T in PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which is a negative regulator of T-cell activation, increases the risk of GD. 15943829

2005