Normal allele: GG
This important SNP, located in the PTPN22 gene and also known as R620W or 1858C>T, may influence the risk of multiple autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, autoimmune thyroiditis and systemic lupus erythematosus.
Polymorphism rs2476601 is related to topics like this:
Type 1 diabetesRheumatoid arthritisMyasthenia
Research and publications:
15004560 A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
15208781 A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
15273934 Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
15580548 The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis
15674368 The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status
15719322 Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes
15744042 Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
15934099 Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene
16052172 The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1
16175503 PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis
16185327 The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease
16273109 Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
16339849 Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
16380915 Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4
16464986 Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population
16470599 Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations
16490755 Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
16945141 Fine mapping of genes within the IDDM8 region in rheumatoid arthritis
17000021 No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations
17044734 European population substructure: clustering of northern and southern populations
17133608 Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis
17148556 Association of PTPN22 haplotypes with Graves' disease
17170052 Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK
17334650 A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene
17436241 Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis
17554260 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
17554300 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
17579671 Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma
17606874 Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes
17665434 Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status
17666451 Associations between human leukocyte antigen, PTPN22, CTLA4 genotypes and rheumatoid arthritis phenotypes of autoantibody status, age at diagnosis and erosions in a large cohort study
17683561 The TCF7L2 locus and type 1 diabetes
17868256 PTPN22 gene polymorphism in Behçet's disease
17878369 Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes
18075792 PTPN22: its role in SLE and autoimmunity
18200060 PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not
18248681 Prevalence of common disease-associated variants in Asian Indians
18292987 Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes
18301444 Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
18305142 PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes
18310307 Genetic similarities between latent autoimmune diabetes in adults, type 1 diabetes, and type 2 diabetes
18341666 Polymorphisms in the PTPN22 region are associated with psoriasis of early onset
18375974 PTPN22 gene polymorphism in Takayasu's arteritis
18434327 Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility
18456185 Genetics and genomics of primary biliary cirrhosis
18462498 Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking
18466461 Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1
18466472 Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm
18466483 Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritis
18466513 Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15
18466529 Comparing strategies for evaluation of candidate genes in case-control studies using family data
18466531 Case-control association analysis of rheumatoid arthritis with candidate genes using related cases
18466535 Modeling the effect of PTPN22 in rheumatoid arthritis
18466554 Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests
18466563 Classification of rheumatoid arthritis status with candidate gene and genome-wide single-nucleotide polymorphisms using random forests
18535005 The search for genes contributing to endometriosis risk
18556337 Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1)
18578611 Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population
18587394 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
18648537 A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
18668548 Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility
18710467 The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease
18759295 The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus
18776148 Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms
18794853 Common variants at CD40 and other loci confer risk of rheumatoid arthritis
18821667 The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients
18923449 Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22
18978792 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
18987647 Rheumatoid arthritis: a view of the current genetic landscape
19068216 Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease
19098027 SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms
19119414 IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production
19180256 Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort
19180477 Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations
19188433 Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?
19210878 Contribution of the R620W polymorphism of protein tyrosine phosphatase non-receptor 22 to systemic lupus erythematosus in Poland
19210888 Role of HLA-DRB1 and PTPN22 genes in susceptibility to juvenile idiopathic arthritis in Hungarian patients
19265110 Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling
19357851 No association of PTPN22 gene polymorphism with rheumatoid arthritis in Turkey
19408013 Strategies and issues in the detection of pathway enrichment in genome-wide association studies
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
19435719 Association of CD40 with rheumatoid arthritis confirmed in a large UK case-control study
19440200 Identification of new SLE-associated genes with a two-step Bayesian study design
19445664 Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
19503088 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
19503742 Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients
19557189 Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions
19565500 Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
19569043 Genome-wide association studies and the genetic dissection of complex traits
19591781 The search for lupus biomarkers
19682379 TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population
19776214 SimCT: a generic tool to visualize ontology-based relationships for biological objects
19780033 Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease
19833889 Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study
19838195 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus
19898480 Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis
19898481 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk
19923204 Genetic background of systemic sclerosis: autoimmune genes take centre stage