Variant ID: 1-114377568-A-G

NM_015967.5(PTPN22):c.1858T>C;(p.Arg620Arg)

This variant was identified in 567 publications




Publications:


The Role of Protein Tyrosine Phosphatases in Inflammasome Activation.

International Journal Of Molecular Sciences
MR Spalinger, M Schwarzfischer, M Scharl
Publication Date: 2020-07-31

Variant appearance in text: rs2476601
PMID: 32751912
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Identifying the culprits in neurological autoimmune diseases.

Journal Of Translational Autoimmunity
Y Acosta-Ampudia, DM Monsalve, C Ramírez-Santana
Publication Date: 2019-12

Variant appearance in text: rs2476601
PMID: 32743503
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Genetic Susceptibility of the Host in Virus-Induced Diabetes.

Microorganisms
K Mine, Y Yoshikai, H Takahashi, H Mori, K Anzai, S Nagafuchi
Publication Date: 2020-07-27

Variant appearance in text: rs2476601
PMID: 32727064
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Presence of autoantibodies in "seronegative" rheumatoid arthritis associates with classical risk factors and high disease activity.

Arthritis Research & Therapy
E Reed, AK Hedström, M Hansson, L Mathsson-Alm, B Brynedal, S Saevarsdottir, M Cornillet, PJ Jakobsson, R Holmdahl, K Skriner, G Serre, L Alfredsson, J Rönnelid, K Lundberg
Publication Date: 2020-07-16

Variant appearance in text: rs2476601
PMID: 32678001
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Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.

International Journal Of Molecular Sciences
DS Mikhaylenko, MV Nemtsova, IV Bure, EB Kuznetsova, EA Alekseeva, VV Tarasov, AN Lukashev, MI Beloukhova, AA Deviatkin, AA Zamyatnin
Publication Date: 2020-07-11

Variant appearance in text: rs2476601
PMID: 32664585
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Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus.

Genetics And Molecular Biology
ML Petzl-Erler
Publication Date: 2020

Variant appearance in text: rs2476601
PMID: 32639508
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Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes.

Bmc Medical Genomics
CS Thom, BF Voight
Publication Date: 2020-06-29

Variant appearance in text: rs2476601
PMID: 32600345
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Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India.

Scientific Reports
JW Harrison, DSP Tallapragada, A Baptist, SA Sharp, S Bhaskar, KS Jog, KA Patel, MN Weedon, GR Chandak, CS Yajnik, RA Oram
Publication Date: 2020-06-11

Variant appearance in text: rs2476601
PMID: 32528078
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Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset.

Frontiers In Immunology
S Steiner, SC Becker, J Hartwig, F Sotzny, S Lorenz, S Bauer, M Löbel, AB Stittrich, P Grabowski, C Scheibenbogen
Publication Date: 2020

Variant appearance in text: rs2476601
PMID: 32328064
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Improving the coverage of credible sets in Bayesian genetic fine-mapping.

Plos Computational Biology
A Hutchinson, H Watson, C Wallace
Publication Date: 2020-04-13

Variant appearance in text: rs2476601
PMID: 32282791
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Identification of 67 Pleiotropic Genes Associated With Seven Autoimmune/Autoinflammatory Diseases Using Multivariate Statistical Analysis.

Frontiers In Immunology
X Jia, N Shi, Y Feng, Y Li, J Tan, F Xu, W Wang, C Sun, H Deng, Y Yang, X Shi
Publication Date: 2020

Variant appearance in text: rs2476601
PMID: 32117227
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Molecular Biomarkers in Drug-Induced Liver Injury: Challenges and Future Perspectives.

Frontiers In Pharmacology
S Fu, D Wu, W Jiang, J Li, J Long, C Jia, T Zhou
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 32082163
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Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo.

Biomarker Insights
GB Huraib, F Al Harthi, M Arfin, A Aljamal, AS Alrawi, A Al-Asmari
Publication Date: 2020

Variant appearance in text: rs2476601
PMID: 32076368
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DNA Methylation Near the INS Gene is Associated with INS Genetic Variation (rs689) and Type 1 Diabetes in the Diabetes Autoimmunity Study in the Young (DAISY).

Pediatric Diabetes
PM Carry, LA Vanderlinden, RK Johnson, F Dong, AK Steck, BI Frohnert, M Rewers, IV Yang, K Kechris, JM Norris
Publication Date: 2020-02-14

Variant appearance in text: rs2476601
PMID: 32061050
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Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

Frontiers In Neurology
EH Oh, JH Shin, HS Kim, JW Cho, SY Choi, KD Choi, JK Rhee, S Lee, C Lee, JH Choi
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 32038468
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The relationship of the immune response mediator genes polymorphic variants with the methotrexate efficacy in juvenile idiopathic arthritis.

Turkish Journal Of Medical Sciences
L Nazarova, K Danilko, V Malievsky, D Karimov, A Bakirov, T Viktorova
Publication Date: 2020-01-20

Variant appearance in text: rs2476601
PMID: 31958219
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Reduced GLP-1 response to a meal is associated with the CTLA4 rs3087243 G/G genotype.

Central-European Journal Of Immunology
A Zóka, G Barna, G Nyírő, Á Molnár, L Németh, G Műzes, A Somogyi, G Firneisz
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 31933538
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Large-Scale Simultaneous Testing of Cross-Covariance Matrices with Applications to PheWAS.

Statistica Sinica
T Cai, TT Cai, K Liao, W Liu
Publication Date: 2019-04

Variant appearance in text: rs2476601
PMID: 31889766
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Slowly Progressive Type 1 Diabetes Mellitus: Current Knowledge And Future Perspectives.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
A Nishimura, K Matsumura, S Kikuno, K Nagasawa, M Okubo, Y Mori, T Kobayashi
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 31819572
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Chronic Immune Activation in Systemic Lupus Erythematosus and the Autoimmune PTPN22 Trp620 Risk Allele Drive the Expansion of FOXP3+ Regulatory T Cells and PD-1 Expression.

Frontiers In Immunology
RC Ferreira, X Castro Dopico, JJ Oliveira, DB Rainbow, JH Yang, D Trzupek, SA Todd, M McNeill, M Steri, V Orrù, E Fiorillo, DJM Crouch, ML Pekalski, F Cucca, TI Tree, TJ Vyse, LS Wicker, JA Todd
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 31781109
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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia
LA Claessens, J Wesselius, M van Lummel, S Laban, F Mulder, D Mul, T Nikolic, HJ Aanstoot, BPC Koeleman, BO Roep
Publication Date: 2019-11-21

Variant appearance in text: rs2476601
PMID: 31754749
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Reciprocal regulation of Th2 and Th17 cells by PAD2-mediated citrullination.

Jci Insight
B Sun, HH Chang, A Salinger, B Tomita, M Bawadekar, CL Holmes, MA Shelef, E Weerapana, PR Thompson, IC Ho
Publication Date: 2019-11-14

Variant appearance in text: rs2476601
PMID: 31723060
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Metabolite-related dietary patterns and the development of islet autoimmunity.

Scientific Reports
RK Johnson, L Vanderlinden, BC DeFelice, K Kechris, U Uusitalo, O Fiehn, M Sontag, T Crume, A Beyerlein, Å Lernmark, J Toppari, AG Ziegler, JX She, W Hagopian, M Rewers, B Akolkar, J Krischer, SM Virtanen, JM Norris,
Publication Date: 2019-10-15

Variant appearance in text: rs2476601
PMID: 31616039
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Genetic aspects of type 1 diabetes.

Annals Of Pediatric Endocrinology & Metabolism
HS Lee, JS Hwang
Publication Date: 2019-09

Variant appearance in text: rs2476601
PMID: 31607106
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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay
Publication Date: 2019-10-11

Variant appearance in text: rs2476601
PMID: 31604968
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Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics
AT Kloek, MC Brouwer, D van de Beek
Publication Date: 2019-09-13

Variant appearance in text: rs2476601
PMID: 31519222
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Novel analytical methods to interpret large sequencing data from small sample sizes.

Human Genomics
F Lichou, S Orazio, S Dulucq, G Etienne, M Longy, C Hubert, A Groppi, A Monnereau, FX Mahon, B Turcq
Publication Date: 2019-08-30

Variant appearance in text: rs2476601
PMID: 31470908
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Persistent C-peptide secretion in Type 1 diabetes and its relationship to the genetic architecture of diabetes.

Bmc Medicine
PM McKeigue, A Spiliopoulou, S McGurnaghan, M Colombo, L Blackbourn, TJ McDonald, S Onengut-Gomuscu, SS Rich, CN A Palmer, JA McKnight, MW J Strachan, AW Patrick, J Chalmers, RS Lindsay, JR Petrie, S Thekkepat, A Collier, S MacRury, HM Colhoun
Publication Date: 2019-08-23

Variant appearance in text: rs2476601
PMID: 31438962
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Leveraging Genetic Findings for Precision Medicine in Vasculitis.

Frontiers In Immunology
M Acosta-Herrera, MA González-Gay, J Martín, A Márquez
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 31428096
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Genetic and Environmental Interaction in Type 1 Diabetes: a Relationship Between Genetic Risk Alleles and Molecular Traits of Enterovirus Infection?

Current Diabetes Reports
M Blanter, H Sork, S Tuomela, M Flodström-Tullberg
Publication Date: 2019-08-10

Variant appearance in text: rs2476601
PMID: 31401790
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Association of metabolism-related genes polymorphisms with adenocarcinoma of the oesophagogastric junction: Evidence from 2261 subjects.

Journal Of Cellular Biochemistry
W Tang, J Liu, Z Zhong, H Qiu, M Kang
Publication Date: 2019-11

Variant appearance in text: rs2476601
PMID: 31211453
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Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.

Pediatric Diabetes
C Winkler, F Haupt, M Heigermoser, J Zapardiel-Gonzalo, J Ohli, T Faure, E Kalideri, A Hommel, P Delivani, R Berner, O Kordonouri, F Roloff, T von dem Berge, K Lange, M Oltarzewski, R Glab, A Szypowska, MD Snape, M Vatish, JA Todd, HE Larsson, A Ramelius, JÅ Kördel, K Casteels, J Paulus, AG Ziegler, E Bonifacio,
Publication Date: 2019-09

Variant appearance in text: rs2476601
PMID: 31192505
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Autoimmune Disease in Women: Endocrine Transition and Risk Across the Lifespan.

Frontiers In Endocrinology
MK Desai, RD Brinton
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 31110493
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The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata: A meta-analysis of case-control studies.

Medicine
ZX Lei, WJ Chen, JQ Liang, YJ Wang, L Jin, C Xu, XJ Kang
Publication Date: 2019-05

Variant appearance in text: rs2476601
PMID: 31096440
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Non-receptor tyrosine kinase signaling in autoimmunity and therapeutic implications.

Pharmacology & Therapeutics
S Solouki, A August, W Huang
Publication Date: 2019-09

Variant appearance in text: rs2476601
PMID: 31082431
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Genetic Predispositions of Glucocorticoid Resistance and Therapeutic Outcomes in Polymyalgia Rheumatica and Giant Cell Arteritis.

Journal Of Clinical Medicine
T Smutny, I Barvik, T Veleta, P Pavek, T Soukup
Publication Date: 2019-04-27

Variant appearance in text: rs2476601
PMID: 31035618
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Predicting Islet Cell Autoimmunity and Type 1 Diabetes: An 8-Year TEDDY Study Progress Report.

Diabetes Care
JP Krischer, X Liu, K Vehik, B Akolkar, WA Hagopian, MJ Rewers, JX She, J Toppari, AG Ziegler, Å Lernmark,
Publication Date: 2019-06

Variant appearance in text: rs2476601
PMID: 30967432
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Association of PTPN22 polymorphism and its correlation with Graves' disease susceptibility in Polish adult population-A preliminary study.

Molecular Genetics & Genomic Medicine
N Wawrusiewicz-Kurylonek, OM Koper-Lenkiewicz, J Gościk, J Myśliwiec, P Pawłowski, AJ Krętowski
Publication Date: 2019-06

Variant appearance in text: rs2476601
PMID: 30938100
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Multiple Distinctive Demyelinating Lesions Caused by Eosinophilic Granulomatosis With Polyangiitis: Case Report and Literature Review.

Frontiers In Neurology
D Xu, H Xu, F Wang, G Wang, Q Wei, S Lei, Q Gao, Q Zhang, F Guo
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 30930835
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Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese.

Clinical And Experimental Immunology
F Li, X Ma, L Du, L Shi, Q Cao, N Li, T Pang, Y Liu, A Kijlstra, P Yang
Publication Date: 2019-08

Variant appearance in text: rs2476601
PMID: 30921471
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Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children.

Frontiers In Pediatrics
D Smigoc Schweiger, K Goricar, T Hovnik, A Mendez, N Bratina, J Brecelj, B Vidan-Jeras, T Battelino, V Dolzan
Publication Date: 2019

Variant appearance in text: PTPN22: 1858T>C; rs2476601
PMID: 30915320
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Effector Functions of CD4+ T Cells at the Site of Local Autoimmune Inflammation-Lessons From Rheumatoid Arthritis.

Frontiers In Immunology
K Chemin, C Gerstner, V Malmström
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 30915067
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Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis.

Frontiers In Genetics
NA Shaik, B Banaganapalli
Publication Date: 2019

Variant appearance in text: PTPN22: 1858T>C; rs2476601
PMID: 30899276
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Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.

Journal Of Advanced Research
MN Saad, MS Mabrouk, AM Eldeib, OG Shaker
Publication Date: 2019-07

Variant appearance in text: rs2476601
PMID: 30891314
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Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Current Diabetes Reports
MB Johnson, K Cerosaletti, SE Flanagan, JH Buckner
Publication Date: 2019-03-19

Variant appearance in text: rs2476601
PMID: 30888520
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High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility.

Bmc Rheumatology
AM Al-Awadhi, MZ Haider, J Sukumaran, S Balakrishnan
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 30886958
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Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach.

Journal Of Clinical Medicine
K Tizaoui, SH Kim, GH Jeong, A Kronbichler, KS Lee, KH Lee, JI Shin
Publication Date: 2019-03-12

Variant appearance in text: rs2476601
PMID: 30871019
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Autoimmune genetic risk variants as germline biomarkers of response to melanoma immune-checkpoint inhibition.

Cancer Immunology, Immunotherapy : Cii
V Chat, R Ferguson, D Simpson, E Kazlow, R Lax, U Moran, A Pavlick, D Frederick, G Boland, R Sullivan, A Ribas, K Flaherty, I Osman, J Weber, T Kirchhoff
Publication Date: 2019-06

Variant appearance in text: rs2476601
PMID: 30863922
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Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.

Molecules (Basel, Switzerland)
KF Tóth, D Ádám, T Bíró, A Oláh
Publication Date: 2019-03-06

Variant appearance in text: rs2476601
PMID: 30845666
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Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Transplantation
WS Oetting, DP Schladt, CR Dorr, B Wu, W Guan, RP Remmel, D Iklé, RB Mannon, AJ Matas, AK Israni, PA Jacobson,
Publication Date: 2019-08

Variant appearance in text: rs2476601
PMID: 30801535
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Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine
KS Lee, A Kronbichler, DF Pereira Vasconcelos, FR Pereira da Silva, Y Ko, YS Oh, M Eisenhut, PA Merkel, D Jayne, CI Amos, KA Siminovitch, C Rahmattulla, KH Lee, JI Shin
Publication Date: 2019-02-21

Variant appearance in text: rs2476601
PMID: 30795559
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The Autoimmune-Associated Single Nucleotide Polymorphism Within PTPN22 Correlates With Clinical Outcome After Lung Transplantation.

Frontiers In Immunology
K Budding, J van Setten, EA van de Graaf, OA van Rossum, T Kardol-Hoefnagel, JM Kwakkel-van Erp, ED Oudijk, CE Hack, HG Otten
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 30705675
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Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy.

Biomedical Reports
M Escamilla-Tilch, TG Pérez-Suárez, NM Torres-Carrillo, R Rodríguez-Guillén, R Arenas-Guzmán, M Torres-Hernández, M Fafutis-Morris, S Estrada-Parra, I Estrada-Garía, M García-Lechuga, J Granados, R Ramos-Payan
Publication Date: 2019-02

Variant appearance in text: rs2476601
PMID: 30675352
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A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.

Gastroenterology
ET Cirulli, P Nicoletti, K Abramson, RJ Andrade, ES Bjornsson, N Chalasani, RJ Fontana, P Hallberg, YJ Li, MI Lucena, N Long, M Molokhia, MR Nelson, JA Odin, M Pirmohamed, T Rafnar, J Serrano, K Stefánsson, A Stolz, AK Daly, GP Aithal, PB Watkins, ,
Publication Date: 2019-05

Variant appearance in text: rs2476601
PMID: 30664875
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Predicting progression to type 1 diabetes from ages 3 to 6 in islet autoantibody positive TEDDY children.

Pediatric Diabetes
LM Jacobsen, HE Larsson, RN Tamura, K Vehik, J Clasen, J Sosenko, WA Hagopian, JX She, AK Steck, M Rewers, O Simell, J Toppari, R Veijola, AG Ziegler, JP Krischer, B Akolkar, MJ Haller,
Publication Date: 2019-05

Variant appearance in text: rs2476601
PMID: 30628751
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Genetic variants in genes related to inflammation, apoptosis and autophagy in breast cancer risk.

Plos One
JM Schuetz, A Grundy, DG Lee, AS Lai, LC Kobayashi, H Richardson, J Long, W Zheng, KJ Aronson, JJ Spinelli, AR Brooks-Wilson
Publication Date: 2019

Variant appearance in text: rs2476601
PMID: 30601841
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Accelerating annotation of articles via automated approaches: evaluation of the neXtA5 curation-support tool by neXtProt.

Database : The Journal Of Biological Databases And Curation
A Britan, I Cusin, V Hinard, L Mottin, E Pasche, J Gobeill, V Rech de Laval, A Gleizes, D Teixeira, PA Michel, P Ruch, P Gaudet
Publication Date: 2018-01-01

Variant appearance in text: rs2476601
PMID: 30576492
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

Annals Of The Rheumatic Diseases
M Acosta-Herrera, M Kerick, D González-Serna, , , C Wijmenga, A Franke, PK Gregersen, L Padyukov, J Worthington, TJ Vyse, ME Alarcón-Riquelme, MD Mayes, J Martin
Publication Date: 2019-03

Variant appearance in text: rs2476601
PMID: 30573655
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Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Genome Medicine
A Márquez, M Kerick, A Zhernakova, J Gutierrez-Achury, WM Chen, S Onengut-Gumuscu, I González-Álvaro, L Rodriguez-Rodriguez, R Rios-Fernández, MA González-Gay, , , , , MD Mayes, S Raychaudhuri, SS Rich, C Wijmenga, J Martín
Publication Date: 2018-12-20

Variant appearance in text: rs2476601
PMID: 30572963
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CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome.

Genetics And Molecular Biology
LOD Santos, AVS Bispo, JV Barros, RSM Laranjeira, RDN Pinto, JA Silva, AR Duarte, J Araújo, P Sandrin-Garcia, S Crovella, MAC Bezerra, TFM Belmont, MDS Cavalcanti, N Santos
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 30508004
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The Contribution of PTPN22 to Rheumatic Disease.

Arthritis & Rheumatology (Hoboken, N.J.)
T Mustelin, N Bottini, SM Stanford
Publication Date: 2019-04

Variant appearance in text: rs2476601
PMID: 30507064
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Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

Human Molecular Genetics
VA Laufer, HK Tiwari, RJ Reynolds, MI Danila, J Wang, JC Edberg, RP Kimberly, LC Kottyan, JB Harley, TR Mikuls, PK Gregersen, DM Absher, CD Langefeld, DK Arnett, SL Bridges
Publication Date: 2019-03-01

Variant appearance in text: rs2476601
PMID: 30423114
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Maternal dietary supplement use and development of islet autoimmunity in the offspring: TEDDY study.

Pediatric Diabetes
K Silvis, CA Aronsson, X Liu, U Uusitalo, J Yang, R Tamura, Å Lernmark, M Rewers, W Hagopian, JX She, O Simell, J Toppari, A Ziegler, B Akolkar, J Krischer, SM Virtanen, JM Norris,
Publication Date: 2019-02

Variant appearance in text: rs2476601
PMID: 30411443
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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
SE John, D Antony, M Eaaswarkhanth, P Hebbar, AM Channanath, D Thomas, S Devarajan, J Tuomilehto, F Al-Mulla, O Alsmadi, TA Thanaraj
Publication Date: 2018-11-08

Variant appearance in text: rs2476601
PMID: 30409984
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PTPN22 1858C>T polymorphism is associated with increased CD154 expression and higher CD4+ T cells percentage in rheumatoid arthritis patients.

Journal Of Clinical Laboratory Analysis
Y Ruiz-Noa, J Hernández-Bello, MA Llamas-Covarrubias, CA Palafox-Sánchez, E Oregon-Romero, PE Sánchez-Hernández, MG Ramírez-Dueñas, I Parra-Rojas, JF Muñoz-Valle
Publication Date: 2019-03

Variant appearance in text: rs2476601
PMID: 30402903
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The PTPN22 C1858T (R620W) functional polymorphism in inflammatory bowel disease.

Bmc Research Notes
Y Zaid, N Senhaji, FZ Bakhtaoui, A Serrano, N Serbati, M Karkouri, W Badre, M Oudghiri, J Martin, S Nadifi
Publication Date: 2018-11-01

Variant appearance in text: rs2476601
PMID: 30384859
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The Environmental Determinants of Diabetes in the Young (TEDDY) Study: 2018 Update.

Current Diabetes Reports
M Rewers, H Hyöty, Å Lernmark, W Hagopian, JX She, D Schatz, AG Ziegler, J Toppari, B Akolkar, J Krischer,
Publication Date: 2018-10-23

Variant appearance in text: rs2476601
PMID: 30353256
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Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing.

Molecular Medicine Reports
C Matalliotaki, M Matalliotakis, MI Zervou, A Trivli, I Matalliotakis, G Mavromatidis, DA Spandidos, HM Albertsen, R Chettier, K Ward, GN Goulielmos
Publication Date: 2018-12

Variant appearance in text: rs2476601
PMID: 30272298
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First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

Diabetes Care
DL Cousminer, E Ahlqvist, R Mishra, MK Andersen, A Chesi, MI Hawa, A Davis, KM Hodge, JP Bradfield, K Zhou, VC Guy, M Åkerlund, M Wod, LG Fritsche, H Vestergaard, J Snyder, K Højlund, A Linneberg, A Käräjämäki, I Brandslund, CE Kim, D Witte, EP Sørgjerd, DJ Brillon, O Pedersen, H Beck-Nielsen, N Grarup, RE Pratley, MR Rickels, A Vella, F Ovalle, O Melander, RI Harris, S Varvel, VER Grill, , H Hakonarson, P Froguel, JT Lonsdale, D Mauricio, NC Schloot, K Khunti, CJ Greenbaum, BO Åsvold, KB Yderstræde, ER Pearson, S Schwartz, BF Voight, T Hansen, T Tuomi, BO Boehm, L Groop, RD Leslie, SFA Grant
Publication Date: 2018-11

Variant appearance in text: rs2476601
PMID: 30254083
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Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders.

Journal Of Clinical Medicine
S Ravera, N Carrasco, J Gelernter, R Polimanti
Publication Date: 2018-09-21

Variant appearance in text: rs2476601
PMID: 30248900
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Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.

Nature Genetics
HJ Westra, M Martínez-Bonet, S Onengut-Gumuscu, A Lee, Y Luo, N Teslovich, J Worthington, J Martin, T Huizinga, L Klareskog, S Rantapaa-Dahlqvist, WM Chen, A Quinlan, JA Todd, S Eyre, PA Nigrovic, PK Gregersen, SS Rich, S Raychaudhuri
Publication Date: 2018-10

Variant appearance in text: rs2476601
PMID: 30224649
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Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis.

Bmc Medical Genetics
J Sode, S Bank, U Vogel, PS Andersen, SB Sørensen, AB Bojesen, MR Andersen, I Brandslund, RB Dessau, HJ Hoffmann, B Glintborg, ML Hetland, H Locht, NH Heegaard, V Andersen
Publication Date: 2018-09-12

Variant appearance in text: rs2476601
PMID: 30208882
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Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.

Blood
A Sud, H Thomsen, G Orlando, A Försti, PJ Law, P Broderick, R Cooke, F Hariri, T Pastinen, DF Easton, PDP Pharoah, AM Dunning, J Peto, F Canzian, R Eeles, Z Kote-Jarai, K Muir, N Pashayan, D Campa, , P Hoffmann, MM Nöthen, KH Jöckel, EP von Strandmann, AJ Swerdlow, A Engert, N Orr, K Hemminki, RS Houlston
Publication Date: 2018-11-08

Variant appearance in text: rs2476601
PMID: 30194254
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Genetic susceptibility to delayed graft function following kidney transplantation: a systematic review of the literature.

Clinical Kidney Journal
J Huart, JM Krzesinski, F Jouret
Publication Date: 2018-08

Variant appearance in text: rs2476601
PMID: 30090630
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Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

Postepy Dermatologii I Alergologii
KS Rajendiran, M Rajappa, L Chandrashekar, DM Thappa
Publication Date: 2018-06

Variant appearance in text: rs2476601
PMID: 30008646
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Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis.

Annals Of The Rheumatic Diseases
LM Diaz-Gallo, D Ramsköld, K Shchetynsky, L Folkersen, K Chemin, B Brynedal, S Uebe, Y Okada, L Alfredsson, L Klareskog, L Padyukov
Publication Date: 2018-10

Variant appearance in text: rs2476601
PMID: 29967194
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The presence of genetic risk variants within PTPN2 and PTPN22 is associated with intestinal microbiota alterations in Swiss IBD cohort patients.

Plos One
B Yilmaz, MR Spalinger, L Biedermann, Y Franc, N Fournier, JB Rossel, P Juillerat, G Rogler, AJ Macpherson, M Scharl
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 29965986
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How much of the predisposition to Hashimoto's thyroiditis can be explained based on previously reported associations?

Journal Of Endocrinological Investigation
A Jabrocka-Hybel, A Skalniak, J Piątkowski, R Turek-Jabrocka, P Vyhouskaya, A Ludwig-Słomczyńska, J Machlowska, P Kapusta, M Małecki, D Pach, M Trofimiuk-Müldner, K Lizis-Kolus, A Hubalewska-Dydejczyk
Publication Date: 2018-12

Variant appearance in text: rs2476601
PMID: 29931474
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Association of protein tyrosine phosphatase non-receptor type 22 gene functional variant C1858T, HLA-DQ/DR genotypes and autoantibodies with susceptibility to type-1 diabetes mellitus in Kuwaiti Arabs.

Plos One
MZ Haider, MA Rasoul, M Al-Mahdi, H Al-Kandari, GS Dhaunsi
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 29924845
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The Innate Immune System: A Trigger for Many Chronic Inflammatory Intestinal Diseases.

Inflammatory Intestinal Diseases
N Kamada, G Rogler
Publication Date: 2016-07

Variant appearance in text: rs2476601
PMID: 29922660
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Lack of the Association of the PTPN22 C1858T Gene Polymorphism With Susceptibility to Familial Mediterranean Fever.

Archives Of Rheumatology
O Küçükşahin, Z Şeker, A Şahin, G Kinikli, T Tuncali, M Turgay, AK Okoh, E Külahçioğlu, Ş Erten, A Ateş
Publication Date: 2016-06

Variant appearance in text: rs2476601
PMID: 29900952
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Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis.

Arthritis Research & Therapy
JE Parkes, S Rothwell, A Oldroyd, H Chinoy, JA Lamb,
Publication Date: 2018-06-08

Variant appearance in text: rs2476601
PMID: 29884237
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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.

Scientific Reports
D Eriksson, M Bianchi, N Landegren, F Dalin, J Skov, L Hultin-Rosenberg, A Mathioudaki, J Nordin, Å Hallgren, G Andersson, K Tandre, S Rantapää Dahlqvist, P Söderkvist, L Rönnblom, AL Hulting, J Wahlberg, P Dahlqvist, O Ekwall, JRS Meadows, K Lindblad-Toh, S Bensing, G Rosengren Pielberg, O Kämpe
Publication Date: 2018-05-30

Variant appearance in text: rs2476601
PMID: 29849176
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PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.

Journal Of The American Medical Informatics Association : Jamia
JA Sinnott, F Cai, S Yu, BP Hejblum, C Hong, IS Kohane, KP Liao
Publication Date: 2018-10-01

Variant appearance in text: rs2476601
PMID: 29788308
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Genes and their single nucleotide polymorphism involved in innate immune response in central nervous system in bacterial meningitis: review of literature data.

Inflammation Research : Official Journal Of The European Histamine Research Society ... [Et Al.]
E Gowin, D Januszkiewicz-Lewandowska
Publication Date: 2018-08

Variant appearance in text: rs2476601
PMID: 29754263
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Risk factors and disease mechanisms in myositis.

Nature Reviews. Rheumatology
FW Miller, JA Lamb, J Schmidt, K Nagaraju
Publication Date: 2018-04-20

Variant appearance in text: rs2476601
PMID: 29674613
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Toll-like receptors in lupus nephritis.

Journal Of Biomedical Science
SK Devarapu, HJ Anders
Publication Date: 2018-04-12

Variant appearance in text: rs2476601
PMID: 29650017
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Smoking under hypoxic conditions: a potent environmental risk factor for inflammatory and autoimmune diseases.

Military Medical Research
MS Hussain, V Tripathi
Publication Date: 2018-03-30

Variant appearance in text: rs2476601
PMID: 29598831
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Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis.

Inflammatory Bowel Diseases
S Venkateswaran, J Prince, DJ Cutler, UM Marigorta, DT Okou, S Prahalad, D Mack, B Boyle, T Walters, A Griffiths, CG Sauer, N LeLeiko, D Keljo, J Markowitz, SS Baker, J Rosh, M Pfefferkorn, MB Heyman, A Patel, A Otley, R Baldassano, J Noe, P Rufo, M Oliva-Hemker, S Davis, ME Zwick, G Gibson, LA Denson, J Hyams, S Kugathasan
Publication Date: 2018-03-19

Variant appearance in text: rs2476601
PMID: 29562276
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Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling.

Scientific Reports
DJ Perry, CH Wasserfall, RA Oram, MD Williams, A Posgai, AB Muir, MJ Haller, DA Schatz, MA Wallet, CE Mathews, MA Atkinson, TM Brusko
Publication Date: 2018-03-14

Variant appearance in text: rs2476601
PMID: 29540798
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Role of PTPN2/22 polymorphisms in pathophysiology of Crohn's disease.

World Journal Of Gastroenterology
RC Sharp, SA Beg, SA Naser
Publication Date: 2018-02-14

Variant appearance in text: rs2476601
PMID: 29456405
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Polymorphisms in Protein Tyrosine Phosphatase Non-receptor Type 2 and 22 (PTPN2/22) Are Linked to Hyper-Proliferative T-Cells and Susceptibility to Mycobacteria in Rheumatoid Arthritis.

Frontiers In Cellular And Infection Microbiology
RC Sharp, SA Beg, SA Naser
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 29423382
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Genetic polymorphisms associated with psoriasis and development of psoriatic arthritis in patients with psoriasis.

Plos One
ND Loft, L Skov, MK Rasmussen, R Gniadecki, TN Dam, I Brandslund, HJ Hoffmann, MR Andersen, RB Dessau, AC Bergmann, NM Andersen, MK Abildtoft, PS Andersen, ML Hetland, B Glintborg, S Bank, U Vogel, V Andersen
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 29389950
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The Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) R620W Functional Polymorphism in Psoriasis.

Clinical Medicine Insights. Arthritis And Musculoskeletal Disorders
G Bin Huraib, F Al Harthi, M Arfin, S Rizvi, A Al-Asmari
Publication Date: 2018

Variant appearance in text: rs2476601
PMID: 29348710
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Loss of B-Cell Anergy in Type 1 Diabetes Is Associated With High-Risk HLA and Non-HLA Disease Susceptibility Alleles.

Diabetes
MJ Smith, M Rihanek, C Wasserfall, CE Mathews, MA Atkinson, PA Gottlieb, JC Cambier
Publication Date: 2018-04

Variant appearance in text: rs2476601
PMID: 29343548
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Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing.

Oncotarget
Y Li, E Lai-Han Leung, H Pan, X Yao, Q Huang, M Wu, T Xu, Y Wang, J Cai, R Li, W Liu, L Liu
Publication Date: 2017-12-19

Variant appearance in text: rs2476601
PMID: 29340042
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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Bmc Genomics
M Koko, MOE Abdallah, M Amin, M Ibrahim
Publication Date: 2018-01-15

Variant appearance in text: rs2476601
PMID: 29334895
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Vitamin D Receptor Gene Polymorphisms Influence T1D Susceptibility among Pakistanis.

International Journal Of Genomics
M Mukhtar, A Batool, A Wajid, I Qayyum
Publication Date: 2017

Variant appearance in text: rs2476601
PMID: 29333433
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000359785.5 c.1858T>C p.Trp620Arg missense_variant 14/21 -
ENST00000420377.2 c.1858T>C p.Trp620Arg missense_variant 14/20 -
ENST00000460620.1 c.469-15292T>C - intron_variant - 6/7
ENST00000484147.1 n.1899T>C - non_coding_transcript_exon_variant 14/16 -
ENST00000525799.1 c.1477T>C p.Trp493Arg missense_variant 9/15 -
ENST00000528414.1 c.1693T>C p.Trp565Arg missense_variant 12/19 -
ENST00000532224.1 c.*1136T>C - 3_prime_UTR_variant,NMD_transcript_variant 10/17 -
ENST00000538253.1 c.1126T>C p.Trp376Arg missense_variant 10/17 -
NM_001193431.2 c.1858T>C p.Arg620= synonymous_variant 14/21 -
NM_001308297.1 c.1786T>C p.Arg596= synonymous_variant 13/20 -
NM_012411.5 c.1693T>C p.Arg565= synonymous_variant 12/19 -
NM_015967.7 c.1858T>C p.Arg620= synonymous_variant 14/21 -
NR_125965.1 n.414+19474A>G - intron_variant,non_coding_transcript_variant - 3/4