openSNP | rs2476601

Links to SNPedia

Title	Summary
rs2476601 A/G	Increased risk of multiple autoimmune disorders }} missense mutation in the ptpn22 gene resulting in r620w change in the resulting protein lypw (normal is lyp). note that the (a;a) genotype is quite rare. lypw carriage is associated with diminished type i interferon (ifn) productin in response to toll-like receptor (tlr) activation. dysregulation of interferon, an inflammatory cytokine has been implicated in the pathogenesis of multiple autoimmune disorders including systemic lupus erythematosis ([[sle]]). <u>associated autoimmune disorders</u> {{pmid\|15719322}} one study suggested increased risk of multiple autoimmune disorders to varying degrees: 2.5x risk for [[type-1 diabetes]] 1.5x risk for [[rheumatoid arthritis]] 1.5x risk for [[sle]] 1.8x risk for [[hashimoto thyroiditis]] {{pmid\|21543514}} study of a very genetically homogenous population in crete also showed association of r620w with sle. {{pmid\|22237046}} {{pmid\|25448792}} other studies demonstrated an association of r620w with [[anca vasculitis]], specifically [[gpa]] aka [[wegener's]] and [[mpa]], and association with increased pathology of specific organs (lung involvement, ent involvement, skin involvement, and peripheral neuropathy were all ~1.5-2x more likely) {{pmid\|26318187}} another study examined [[myasthenia gravis]] (mg) and found increased risk of mg specifically early onset / thymoma associated. <u>ethnic variation of significance</u> {{pmid\|25963842
rs2476601 A/A	2x risk of rheumatoid arthritis and other autoimmune diseases
rs2476601 G/G	Normal risk for autoimmune disorders

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Wan R. Wan Taib	The PTPN22 Locus and Rheumatoid Arthritis: No Evidence for an Effect on Risk Independent of Arg620Trp	2010	2428
Michael F Seldin	European Population Substructure: Clustering of Northern and Southern Populations	2006	75804
Raymond D. Heatherly	Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity	2013	2950
Michele Ciro Totaro	PTPN22 1858C>T Polymorphism Distribution in Europe and Association with Rheumatoid Arthritis: Case-Control Study and Meta-Analysis	2011	3957
Kenneth Andrew Ross	Coherent Somatic Mutation in Autoimmune Disease	2014	3782
Wan-Yu Lin	Improving Power of Genome-Wide Association Studies with Weighted False Discovery Rate Control and Prioritized Subset Analysis	2012	4936
Chris Cotsapas	Pervasive Sharing of Genetic Effects in Autoimmune Disease	2011	21388
Marie Louise Max Andersen	Complex Multi-Block Analysis Identifies New Immunologic and Genetic Disease Progression Patterns Associated with the Residual β-Cell Function 1 Year after Diagnosis of Type 1 Diabetes	2013	2989
Soumya Raychaudhuri	Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions	2009	25532
Liqiong Xue	Genetic Heterogeneity of Susceptibility Gene in Different Ethnic Populations: Refining Association Study of PTPN22 for Graves’ Disease in a Chinese Han Population	2013	1928
Camille Jung	Genotype/Phenotype Analyses for 53 Crohn’s Disease Associated Genetic Polymorphisms	2012	4139
Manuela Zanda	A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes	2014	4791
Bahram Namjou	PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes	2013	3990
Yongshuai Jiang	Meta-Analysis of 125 Rheumatoid Arthritis-Related Single Nucleotide Polymorphisms Studied in the Past Two Decades	2012	3263
Ramesh C. Juyal	Potential of Ayurgenomics Approach in Complex Trait Research: Leads from a Pilot Study on Rheumatoid Arthritis	2012	6472
Qi Zhang	A Functional Variant of PTPN22 Confers Risk for Vogt-Koyanagi-Harada Syndrome but Not for Ankylosing Spondylitis	2014	2251
Vincent Plagnol	Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases	2011	10702
Marco Medici	Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease	2014	11655
Rohina Rubicz	A Genome-Wide Integrative Genomic Study Localizes Genetic Factors Influencing Antibodies against Epstein-Barr Virus Nuclear Antigen 1 (EBNA-1)	2013	9845
Pushplata Prasad	Caucasian and Asian Specific Rheumatoid Arthritis Risk Loci Reveal Limited Replication and Apparent Allelic Heterogeneity in North Indians	2012	5651
Gizem A. Kaya	The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey	2014	983
Hirofumi Nakaoka	A Systems Genetics Approach Provides a Bridge from Discovered Genetic Variants to Biological Pathways in Rheumatoid Arthritis	2011	5888
Beata Jurecka-Lubieniecka	Association between Polymorphisms in the TSHR Gene and Graves' Orbitopathy	2014	2937
Aashiq H. Mirza	Effects of GWAS-Associated Genetic Variants on lncRNAs within IBD and T1D Candidate Loci	2014	5305
Lori B. Chibnik	Genetic Risk Score Predicting Risk of Rheumatoid Arthritis Phenotypes and Age of Symptom Onset	2011	4578
Lisa M. Maier	IL2RA Genetic Heterogeneity in Multiple Sclerosis and Type 1 Diabetes Susceptibility and Soluble Interleukin-2 Receptor Production	2009	8060
Rosalba Portuesi	Assessment of Type 1 Diabetes Risk Conferred by HLA-DRB1, INS-VNTR and PTPN22 Genes Using the Bayesian Network Approach	2013	1466
Hui-Hsin Chang	PTPN22.6, a Dominant Negative Isoform of PTPN22 and Potential Biomarker of Rheumatoid Arthritis	2012	2796
Isabela Goeldner	Mannose Binding Lectin and Susceptibility to Rheumatoid Arthritis in Brazilian Patients and Their Relatives	2014	1868
Garima Juyal	An Investigation of Genome-Wide Studies Reported Susceptibility Loci for Ulcerative Colitis Shows Limited Replication in North Indians	2011	4399
Steffen Bank	Polymorphisms in the Inflammatory Pathway Genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG Are Associated with Susceptibility of Inflammatory Bowel Disease in a Danish Cohort	2014	5137
Monica Chang	A Large-Scale Rheumatoid Arthritis Genetic Study Identifies Association at Chromosome 9q33.2	2008	11532
César A. Hidalgo	A Dynamic Network Approach for the Study of Human Phenotypes	2009	23550
Qi Zhang	No Association of PTPN22 Polymorphisms with Susceptibility to Ocular Behcet's Disease in Two Chinese Han Populations	2012	2595
Elisa Alonso-Perez	Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study	2012	3326
David G. Clayton	Prediction and Interaction in Complex Disease Genetics: Experience in Type 1 Diabetes	2009	14414
Sharon A. Chung	Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti–dsDNA Autoantibody Production	2011	12000
Jonathan P. Bradfield	A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci	2011	15942
Sebastian Okser	Genetic Variants and Their Interactions in the Prediction of Increased Pre-Clinical Carotid Atherosclerosis: The Cardiovascular Risk in Young Finns Study	2010	8490
Amalia Lamana	The TT Genotype of the STAT4 rs7574865 Polymorphism Is Associated with High Disease Activity and Disability in Patients with Early Arthritis	2012	3244
Yali Cao	High Basal Activity of the PTPN22 Gain-of-Function Variant Blunts Leukocyte Responsiveness Negatively Affecting IL-10 Production in ANCA Vasculitis	2012	4061
Beata Jurecka-Lubieniecka	Association between Age at Diagnosis of Graves' Disease and Variants in Genes Involved in Immune Response	2013	3716
Alexandra Zhernakova	Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci	2011	20598
Ian C. Scott	Predicting the Risk of Rheumatoid Arthritis and Its Age of Onset through Modelling Genetic Risk Variants with Smoking	2013	11843
John R. B. Perry	Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases	2012	19233
Kimberly E. Taylor	Risk Alleles for Systemic Lupus Erythematosus in a Large Case-Control Collection and Associations with Clinical Subphenotypes	2011	10364
Nicholas Eriksson	Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci	2012	12512
Zhi-Dan Fan	STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients	2015	1630
Chia-Ling Kuo	Assessing the Probability that a Finding Is Genuine for Large-Scale Genetic Association Studies	2015	1372
Lucia Vernerova	A Combination of CD28 (rs1980422) and IRF5 (rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study	2016	2047
Tetsuo Kobayashi	Serum Immunoglobulin G Levels to Porphyromonas gingivalis Peptidylarginine Deiminase Affect Clinical Response to Biological Disease-Modifying Antirheumatic Drug in Rheumatoid Arthritis	2016	2244

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
N Sahin	PTPN22 gene polymorphism in Takayasu's arteritis.	2008	0
Deborah J Smyth	PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.	2008	11	10.2337/db07-1131
J Wipff	Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population.	2006	1	10.1136/ard.2005.048181
Michele Ciro Totaro	PTPN22 1858C>T Polymorphism Distribution in Europe and Association with Rheumatoid Arthritis: Case-Control Study and Meta-Analysis	2011	11	10.1371/journal.pone.0024292
V E Carlton	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis	2005	1
Jurgita Skieceviciene	Replication study of ulcerative colitis risk loci in a Lithuanian-Latvian case-control sample.	2013	1	10.1097/MIB.0b013e3182a3eaeb
A T Lee	The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status.	2005	9	-
Carine Salliot	PTPN22 R620W genotype-phenotype correlation analysis and gene-environment interaction study in early rheumatoid arthritis: results from the ESPOIR cohort.	2011	6	10.1093/rheumatology/ker224
A. Hinks	Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK	2007	2	10.1136/ard.2006.060459
Eiji Kawasaki	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.	2006	6	-
Nora Magdalena Torres-Carrillo	The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico	2012	3	10.1016/j.imlet.2012.05.007
B Bianco	PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome.	2010	10	10.1111/j.1365-3083.2010.02438.x
M C Martín	The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease.	2005	4	10.1111/j.1399-0039.2005.00428.x
Luis Rodríguez-Rodríguez	Combined influence of genetic and environmental factors in age of rheumatoid arthritis onset.	2011	5	10.1007/s00296-011-2090-9
N Sahin	PTPN22 gene polymorphism in Takayasu's arteritis.	2008	0	-
Anne Hinks	Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK	2007	4	10.1136/ard.2006.060459
Antonio Julià	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	2008	16	10.1002/art.23623
H Chinoy	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.	2008	6	10.1002/art.23900
Camilla Cervin	Genetic similarities between latent autoimmune diabetes in adults, type 1 diabetes, and type 2 diabetes.	2008	14	-
Edyta Majorczyk	Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma.	2007	8	-
Yongshuai Jiang	Meta-Analysis of 125 Rheumatoid Arthritis-Related Single Nucleotide Polymorphisms Studied in the Past Two Decades	2012	4	10.1371/journal.pone.0051571
B Bianco	PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome.	2010	9	-
Leszek Domański	Lack of association of the rs2476601 PTPN22 gene polymorphism with transplanted kidney function.	2011	3	-
Ling Mei	Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.	2007	5	10.1186/1753-6561-1-s1-s17
H-R Kouhpayeh	R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran.	2012	1	10.4238/2012.April.27.6
Victoria E H Carlton	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.	2005	23	-
R Aksoy	No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus	2011	2	10.1007/s11033-011-0692-7; 10.1007/s11033-011-0692-7
Pravitt Gourh	Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.	2006	7	10.1002/art.22196
Karen H Costenbader	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.	2008	18	10.1186/ar2421
Ling Mei	Evaluating gene × gene and gene × smoking interaction in rheumatoid arthritis using candidate genes in GAW15	2007	5	-
Lyndsey H Taylor	Metaanalysis of the Association of Smoking and PTPN22 R620W Genotype on Autoantibody Status and Radiological Erosions in Rheumatoid Arthritis.	2013	2	10.3899/jrheum.120784
J Wipff	Lack of association between the protein tyrosine phosphatase non‐receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population	2006	1	10.1136/ard.2005.048181
J Zhu	Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population	2011	1	Artn 53\nDoi 10.1186/1471-2350-12-53
Anne Hinks	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene.	2005	14	10.1002/art.21049
M V Prasad Linga Reddy	The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.	2005	5	10.1038/sj.gene.6364252
N Sahin	PTPN22 gene polymorphism in Behçet's disease.	2007	1	10.1111/j.1399-0039.2007.00928.x
Carine Salliot	PTPN22 R620W genotype-phenotype correlation analysis and gene-environment interaction study in early rheumatoid arthritis: results from the ESPOIR cohort.	2011	1	10.1093/rheumatology/ker224
Gary Y J Chew	Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22)	2013	4	10.1016/j.jaci.2012.06.023
S L Mackie	Relationship between area-level socio-economic deprivation and autoantibody status in patients with rheumatoid arthritis: Multicentre cross-sectional study	2012	1	-
C Salliot	Interaction between the PTPN22 620W Risk allele and tobacco and hormonal treatments influence the anti-CCP or RF status of rheumatoid arthritis: Results from the ESPOIR cohort	2009	3
Jose Cervera	Functional polymorphisms in SOCS1 and PTPN22 genes correlate with the response to imatinib treatment in newly diagnosed chronic-phase chronic myeloid leukemia	2012	5	10.1016/j.leukres.2011.06.011
M C Martín	The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease.	2005	4	-
Beate Skinningsrud	Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.	2008	7	-
N Sahin	PTPN22 gene polymorphism in Behcet's disease	2007	2
R Aksoy	No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus	2011	1	10.1007/s11033-011-0692-7;
W W Lea	The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-analysis update.	2011	3	-
A K Steck	rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.	2009	7	-
Luis Rodríguez-Rodríguez	Combined influence of genetic and environmental factors in age of rheumatoid arthritis onset.	2011	1	10.1007/s00296-011-2090-9
A K Steck	rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.	2009	7	10.1038/gene.2009.87
P Harrison	Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients.	2006	6	10.1093/rheumatology/kei250
Eiji Kawasaki	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.	2006	8	10.1002/ajmg.a
V E Carlton	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis	2005	11	S0002-9297(07)61005-2 [pii]\r10.1086/468189
Matthew Roycroft	The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease.	2009	4	-
A Ates	Association of the PTPN22 gene polymorphism with autoantibody positivity in Turkish rheumatoid arthritis patients.	2011	4	10.1111/j.1399-0039.2011.01675.x
Matthew Roycroft	The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease.	2009	6	10.1111/j.1365-2265.2008.03380.x
B Pazár	Role of HLA-DRB1 and PTPN22 genes in susceptibility to juvenile idiopathic arthritis in Hungarian patients.	2008	2	-
N Sahin	PTPN22 gene polymorphism in Behçet's disease.	2007	3	-
J. MARTIN	Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region	2011	3	10.3899/jrheum.110361
Asem Alkhateeb	Clinical characteristics and PTPN22 1858C/T variant analysis in Jordanian Arab vitiligo patients.	2010	2	10.2165/11537180-000000000-00000
Anne Hinks	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene.	2005	13	-
C Salliot	PTPN22 R620W genotype-phenotype correlation analysis and gene-environment interaction study in early rheumatoid arthritis: Results from the ESPOIR cohort	2011	3
France Gagnon	Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritis.	2007	2	10.1186/1753-6561-1-s1-s14
Bahram Namjou	PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes	2013	4	10.1371/journal.pone.0069404
K Douroudis	PTPN22 gene regulates natural killer cell proliferation during in vitro expansion.	2010	5	10.1111/j.1399-0039.2010.01512.x
Jing Zhu	Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population.	2011	1	10.1186/1471-2350-12-53
B. Sharifi-Mood	R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran	2012	1	10.4238/2012.April.27.6
Carine Salliot	PTPN22 R620W genotype-phenotype correlation analysis and gene-environment interaction study in early rheumatoid arthritis: results from the ESPOIR cohort.	2011	1	10.1093/rheumatology/ker224
Nora Magdalena Torres-Carrillo	The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico.	2012	2	10.1016/j.imlet.2012.05.007
Wan R. Wan Taib	The PTPN22 locus and rheumatoid arthritis: No evidence for an effect on risk independent of Arg620Trp	2010	7	10.1371/journal.pone.0013544
P Harrison	Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients.	2006	6	-
Lianfu Chen	A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests.	2009	2	10.1186/1753-6561-3-s7-s6
Asem Alkhateeb	Clinical characteristics and PTPN22 1858C/T variant analysis in Jordanian Arab vitiligo patients.	2010	2	10.2165/11537180-000000000-00000
P K Gregersen	Risk for myasthenia gravis maps to a (151) Pro-->Ala change in TNIP1 and to human leukocyte antigen-B*08	2012	3	10.1002/ana.23691
Joanne M Heward	Association of PTPN22 haplotypes with Graves' disease.	2007	10	10.1210/jc.2006-2064
A R Morgan	PTPN2 but not PTPN22 is associated with Crohn's disease in a New Zealand population.	2010	4	10.1111/j.1399-0039.2010.01493.x
Lyndsey H Taylor	Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoantibody status and radiological erosions in rheumatoid arthritis.	2013	4	10.3899/jrheum.120784
H Chinoy	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	2008	3	10.1002/art.23900
Lyndsey H Taylor	Metaanalysis of the Association of Smoking and PTPN22 R620W Genotype on Autoantibody Status and Radiological Erosions in Rheumatoid Arthritis.	2013	1	10.3899/jrheum.120784
De-Hua Sun	A PTPN22 promoter polymorphism −1123G>C is associated with RA pathogenesis in Chinese	2012	2	10.1007/s00296-010-1705-x
Anna Okruszko	HLA-DR, HLA-DQB1 and PTPN22 gene polymorphism: association with age at onset for autoimmune diabetes.	2012	4	10.5114/aoms.2012.31619
Martha Ramirez	The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population.	2012	2	-
V E Carlton	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis	2005	2	-
M. Isabel Lucena	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class i and II alleles	2011	29	10.1053/j.gastro.2011.04.001
R Aksoy	No association of PTPN22 R620 W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus	2011	1
R Aksoy	No association of PTPN22 R620 W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus	2011	1	-
Anne Hinks	Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK.	2007	1	10.1136/ard.2006.060459
Lindsey A Criswell	Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.	2005	32	10.1086/429096
Marcella Zollino	PTPN22 and myasthenia gravis: Replication in an Italian population and meta-analysis of literature data	2012	2	10.1016/j.nmd.2011.09.003
Leszek Domański	Lack of association of the rs2476601 PTPN22 gene polymorphism with transplanted kidney function.	2011	7
Tulio C Lins	Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: Implications for genetic association studies for autoimmune diseases.	2010	7	10.3109/08916930903405883
Peter K Gregersen	Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.	2012	9	10.1002/ana.23691
M V Prasad Linga Reddy	The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.	2005	5	-
Jose-Ezequiel Martín	Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region.	2011	3	10.3899/jrheum.110361
Beate Skinningsrud	Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.	2008	7	10.1038/ejhg.2008.33
C Salliot	Interaction between the PTPN22 620W Risk allele and tobacco and hormonal treatments influence the anti-CCP or RF status of rheumatoid arthritis: Results from the ESPOIR cohort	2009	3	-
Young Ho Lee	Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and type 1 diabetes.	2013	3	10.1007/s11033-012-2051-8
Pravitt Gourh	Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.	2006	6	-
N.-H. Chang	Altered response to B cell receptor (BCR) crosslinking in SLE: Correlation with genetic risk variants predicted to impact BCR signaling	2012	1
Victoria E H Carlton	PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis	2005	1
W W Lea	The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-analysis update.	2011	12	10.1177/0961203310381774

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Barrett JC	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Nat Genet	05/10/2009	Type 1 diabetes	9.0e-85	NR
Stahl EA	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Nat Genet	05/09/2010	Rheumatoid arthritis	9.0e-74	[1.81-2.08]
Plagnol V	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	PLoS Genet	08/04/2011	Type 1 diabetes autoantibodies	1.0e-100 (T1D)	[NR]
Plenge RM	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	N Engl J Med	09/05/2007	Rheumatoid arthritis	2.0e-11	[NR]
Gregersen PK	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Nat Genet	06/07/2009	Rheumatoid arthritis	2.0e-21	NR
Franke A	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Nat Genet	11/21/2010	Crohn's disease	4.0e-09	[1.17-1.37]
Todd JA	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Nat Genet	06/06/2007	Type 1 diabetes	2.0e-80	[1.82-2.15]

Name	rs2476601
Chromosome	1
Position	113834946
Weight of evidence	275

SNP rs2476601

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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