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:
Research and publications:
15004560 A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
15273934 Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
16175503 PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis
16273109 Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
16945141 Fine mapping of genes within the IDDM8 region in rheumatoid arthritis
17044734 European population substructure: clustering of northern and southern populations
17148556 Association of PTPN22 haplotypes with Graves' disease
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
17606874 Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes
17683561 The TCF7L2 locus and type 1 diabetes
17868256 Polymorphism of the PTPN22 gene in Bechsche'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 Screening for PTPN22 mutation: association of the 1858T allele with Addison's disease
18341666 Polymorphisms in the PTPN22 region are associated with psoriasis of early onset
18375974 Polymorphism of the PTPN22 gene in Takayasu arteritis
18456185 Genetics and genomics of primary biliary cirrhosis
18466461 Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1
18466483 Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritis
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
18535005 The search for genes contributing to endometriosis risk
18587394 Genome-wide association identifies more than 30 different susceptibility loci for Crohn's disease.
18648537 A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
18794853 Common variants at CD40 and other loci confer risk of rheumatoid arthritis
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
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease
19180477 Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations
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
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
19503742 Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients
19569043 Genome-wide association studies and the genetic dissection of complex traits
19591781 The search for lupus biomarkers
19776214 SimCT: a generic tool to visualize ontology-based relationships for biological objects
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