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SNP information rs2476601

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 diabetes
Rheumatoid arthritis
Myasthenia


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

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