Publications:

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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