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Abstracts tagged "Genetic Biomarkers"

  • Abstract Number: 2979 • 2014 ACR/ARHP Annual Meeting

    Nucleic Acid Sensing Receptors TLR7, RIG-I and MDA5 Collaborate in Driving the Systemic IFN Signature and Amplify the Pathogenic Loop: Potential New Targets for Therapy in Primary Sjogrens Syndrome

    Naomi I Maria1, Cornelia G. van Helden-Meeuwsen1, Eline C. Steenwijk1, Arne S. IJpma2, Wouter Beumer1, Zana Brkic1, Virgil A. Dalm1, Paul L. van Daele1, P. Martin van Hagen1, Peter J. van der Spek2, Hemmo A. Drexhage1 and Marjan A. Versnel1, 1Erasmus Medical Center, Immunology, Rotterdam, Netherlands, 2Erasmus Medical Center, Bioinformatics, Rotterdam, Netherlands

    Background/Purpose: Primary Sjögren’s syndrome (pSS) is a systemic autoimmune disease characterized by autoantibodies targeting RNA-associated antigens, anti-SSA/SSB. The IFN-signature is present in over half of…
  • Abstract Number: 2966 • 2014 ACR/ARHP Annual Meeting

    Genome-Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with TNF Inhibitors

    Marieke J.H. Coenen1, Maša Umicevic-Mirkov1, Sophine B. Krintel2, Julia Johansen3, Corinne Miceli-Richard4, Henrik Kallberg5, Hans Scheffer1, Wietske Kievit1, Mart A. van de Laar6, Piet L.C.M. van Riel1, X. Mariette7, Saedis Saevarsdottir8, Merete Lund Hetland9, Sita Vermeulen1 and Cornelis A. Albers1, 1Radboud university medical center, Nijmegen, Netherlands, 2Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, 3Department of Medicine, Herlev, University of Copenhagen, Frederiksberg, Denmark, 4Rheumatology Department, Université Paris-Sud 11, Bicêtre Hospital,, Kremlin Bicêtre, France, 5Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, 6University Twente & Medisch Spectrum Twente, Enschede, Netherlands, 7Paris-Sud University, Paris, France, 8Rheumatology Unit, Dept. of Medicine, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden, 9DANBIO, Center for Rheumatology and Spine Diseases, Glostrup Univ Hospital, Glostrup, Denmark

    Background/Purpose: Pain is the dominant and prevailing symptom of rheumatoid arthritis (RA). Tumor necrosis factor inihibitors (TNFi) have proven very successful in pain reduction. Interestingly,…
  • Abstract Number: 2213 • 2014 ACR/ARHP Annual Meeting

    Gene Expression Profiling of T Helper Subsets in Blood and Affected Muscle Tissues Reveals Differential Activation Pathways in Patients with Juvenile and Adult Dermatomyositis

    Consuelo Lopez de Padilla1, Molly S. Hein1, Cynthia S. Crowson2, Richard S. Pendegraft3, Erik J. Peterson4, Emily Baechler5 and Ann M. Reed1, 1Rheumatology, Mayo Clinic, Rochester, MN, 2Health Sciences Research, Mayo Clinic, Rochester, MN, 3Biomedical Statistics and informatics, Rochester, MN, 4University of Minnesota, Minneapolis, MN, 5Medicine, University of Minnesota, Minneapolis, MN

    Background/Purpose: The molecular and cellular basis for juvenile and adult dermatomyositis (JDM and ADM) presumably is similar. However, important differences in the clinical features, outcome…
  • Abstract Number: 2171 • 2014 ACR/ARHP Annual Meeting

    Polymorphisms in the FCN1 Gene Coding for M-Ficolin Are Associated with Disease Activity, Radiographic Damage and Are the Strongest Predictors of DAS28 Remission in 180 DMARD naïve Early Rheumatoid Arthritis Patients

    Christian G. Ammitzbøll1, Rudi Steffensen2, Steffen Thiel3, Jens Christian Jensenius3, Kim Horslev-Petersen4, Torkell Ellingsen5,6, Merete Lund Hetland7, Peter Junker8, Mikkel Ostergaard9 and Kristian Stengaard-Pedersen10, 1Arhus University Hospital, Aarhus, Denmark, 2Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark, 3Biomedicine, Aarhus University, Aarhus, Denmark, 4Rheumatology, Research Unit at King Christian X Hospital for Rheumatic Diseases, Graasten, Graasten, Denmark, 5Reumatology, Odense University Hospital, Odense, Denmark, 6Diagnostic Center, Regional Hospital Silkeborg, Silkeborg, Denmark, 7DANBIO, Department of Rheumatology, Copenhagen University Hospital at Glostrup, Copenhagen, Denmark, 8Department of Rheumatology, Odense University Hospital, Odense, Denmark, 9Dept of Rheumatology RM, Copenhagen University Hospital, Glostrup, Denmark, 10Rheumatology, Arhus University Hospital, Aarhus, Denmark

    Background/Purpose: M-ficolin is a pattern recognition molecule that collaborates with associated serine proteases as an activator of the complement system. High M-ficolin levels are strongly…
  • Abstract Number: 1896 • 2014 ACR/ARHP Annual Meeting

    Validation of a Novel IFN-Regulated Gene Score As Biomarker in Chronic Atypical Neutrophilic Dermatosis with Lipdoystrophy and Elevated Temperature (CANDLE) Patients on Baricitinib, a Janus Kinase 1 /2 Inhibitor, a Proof of Concept

    Hanna Kim1, Steve Brooks2, Yin Liu1, Adriana Almeida de Jesus3, Gina A. Montealegre Sanchez1, Dawn C. Chapelle1, Nicole Plass1, Yan Huang1 and Raphaela Goldbach-Mansky1, 1Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, 2NIAMS/NIH, Bethesda, MD, 3Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD

    Background/Purpose CANDLE syndrome is a novel autoinflammatory disease with strong IFN response signature.  We hypothesize that IFN dysregulation may drive clinical manifestations in CANDLE and…
  • Abstract Number: 1290 • 2014 ACR/ARHP Annual Meeting

    Knee Osteoarthritis Progression Is Predictable By Genetic Polymorphisms. Results from a Multicenter Association Study

    Francisco J Blanco1, Ingrid Möller2, Nerea Bartolome3, Marta Artieda3, Diego Tejedor3, Antonio Martínez4, Eulàlia Montell5, Helena Martínez5, Marta Herrero5 and Josep Vergés5, 1INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, 2Instituto Poal de Reumatología., Barcelona, Spain, 3Progenika Biopharma, a Grifols Company, Derio, Bizkaia, Spain, 4Progenika, a Grifols Company, Derio, Bizkaia, Spain, 5Pharmascience Division, Bioiberica S.A., Barcelona, Spain

    Background/Purpose: Single Nucleotide Polymorphisms (SNPs) are inherited genetic variations that can predispose or protect individuals against clinical events. Osteoarthritis (OA) has a multifactorial etiology with…
  • Abstract Number: 747 • 2014 ACR/ARHP Annual Meeting

    Systemic Sclerosis Patients with Antitopoisomerase Antibodies Showed Significant Association with CCR6 Polymorphisms

    Javier Martin1, Eguzkine Ochoa2, Jose Ezequiel Martin1, Shervin Assassi3, Lorenzo Beretta4, Patricia Carreira5, Carmen Pilar Simeon6, Eugénie Koumakis7, Philippe Dieude8, Yannick Allanore9, Francisco J. García-Hernández10, Gerard Espinosa11, Ivan Castellvi Barranco12, Luis Trapiella13, Luis Rodriguez Rodriguez14, Miguel A González-Gay15, María-Victoria Egurbide16, Luis Saez17, José Luis Callejas18, JA Vargas-Hitos19, Nicolas Hunzelmann20, Gabriela Riemekasten21, Torsten Witte22, Jörg HW Distler23, Alexander Kreuter24, Claudio Lunardi25, Alessandro Santaniello26, Filemon K. Tan3, Frank C. Arnett3, Paul Shiels27, Ariane L. Herrick28, Jane Worthington29, Madelon C. Vonk30, Bobby P.C. Koeleman31, T.R.D.J. Radstake32 and Maureen Mayes33, 1Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, 2Immunology, Instituto de Parasitología y Biomedicina Lopez Neyra (IPBLN-CSIC), Granada, Spain, 3Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, 4Via Francesco Sforza 28, Ospedale Maggiore Policlinico, Milano, Italy, 5Hospital Universitario 12 de Octubre, Department of Rheumatology, Madrid, Spain, 6Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain, 7Rheumatology A department, Cochin Hospital, Paris Descartes University, Rheumatology A department, Cochin Hospital, Paris, France, 8Rhumatologie, Hopital Bichat Claude Bernard, Paris, France, 9Department of Rheumatology, University Paris Descartes and Cochin Hospital, Paris, France, 10Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain, 11Department of Autoimmune Diseases, Hospital Clínic, Barcelona, Barcelona, Spain, 12Hosp. De Sta. Creu i S. Pau, Vilafranca del Pened, Spain, 13Department of Internal Medicine,, Hospital Universitario Central de Asturias, Asturias, Spain, 14Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 15Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVAL, Santander, Spain, 16Autoimmune Disease Research Unit, Service of Internal Medicine,, Hospital de Cruces, UPV/EHU, Barakaldo, Spain, Barakaldo, Spain, 17Unidad de Enfermedades Autoinmunes, Servicio de Medicina Interna, Hospital Miguel Servet, Zaragoza, Spain, 18Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain, 19Internal Medicine, Hospital Universitario Virgen de las Nieves, Granada, Spain, 20Department of Dermatology, University of Cologne, Cologne, Germany, 21Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany, 22Clinic for Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, 23Department of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, 24Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, 25Department of Medicine, Università degli Studi di Verona, Verona, Italy, 26Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 27University of Glasgow, Glasgow, United Kingdom, 28Musculoskeletal Research Group, School of Translational Medicine, Manchester Academic Health Science Centre, Salford Royal Hospital, University of Manchester., Salford, United Kingdom, 29Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester, United Kingdom, 30Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 31Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, 32Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, 33Internal Medicine/Rheumatology, University of TX Health Science Center -Houston, Houston, TX

    Background/Purpose: Systemic sclerosis (SSc), also known as scleroderma, is an inflammatory autoimmune disease characterized by fibrosis of the skin and internal organs, vascular damage and…
  • Abstract Number: 406 • 2014 ACR/ARHP Annual Meeting

    The Utility of HLA-DR Genotypification As a Complementary Tool to Discriminate Undifferentiated and Rheumatoid Arthritis Patients in Early Arthritis

    Fernando Dal Pra1, Gustavo Citera2, Margarita Landi3, Christian A. Waimann4, Luis Alejandro Cayetti2, Sergio Paira5, Federico Ceccatto6, Teresita Alvarellos7, Luciana Mas7, Josefina Marcos8, Mercedes García8, A Salas8, Alejandro Martinez9, Rafael Chaparro10, Oscar Luis Rillo11, Edson Veloso12, Ricardo V. Juárez13, Maria Elena Crespo14, Antonio Catalán Pellet15, Anastasia Secco15, Lucila Marino16 and V Martire15, 1Instituto de Rehabilitacion Psicofisica, Buenos Aires, Argentina, 2Instituto de Rehabilitación Psicofísica, Buenos Aires, Argentina, 3Rheumatology, Instituto Rehabilitacion Psicofisica, Buenos Aires, Argentina, 4Rheumatology, Hospital Olavarria, Olavarria, Argentina, 5Section of Rheumatology, Hospital Jose Maria Cullen, Santa Fe, Argentina, 6Rheumatology, Hospital Jose María Cullen, Santa Fé, Argentina, 7Laboratorio de Histocompatibilidad, Hospital Privado Centro Medico De Córdoba, Cordoba, Argentina, 8HIGA San Martín, La Plata, Argentina, 9Rheumatology Unit, Hospital General de Agudos Dr. E. Tornú, Buenos Aires, Argentina, 10Rheumatology, Hospital Gral. de Agudos Dr. E. Tornú, Buenos Aires, Argentina, 11Rheumatology Section, Hospital General de Agudos Dr. E. Tornú, Buenos Aires, Argentina, 12Sanatorio y Universidad Adventista Del Plata, Entre Rios, Argentina, 13Rheumatology Section, Hospital Señor del Milagro, Salta, Argentina, 14Hospital Señor Del Milagro, Salta, Argentina, 15Rheumatology, Hospital Bernardino Rivadavia, Buenos Aires, Argentina, 16Rheumathology, Hospital Bernardino Rivadavia, Buenos Aires, Argentina

    Background/Purpose: Only half of patients with undifferentiated arthritis (UA) will progress to rheumatoid arthritis (RA) after two years of follow-up.  Particular human leukocyte antigens class…
  • Abstract Number: 2517 • 2013 ACR/ARHP Annual Meeting

    The Interferon-Alpha Signature In Patients With Serologically Active Clinically Quiescent Systemic Lupus Erythematosus

    Amanda J. Steiman1, Murray B. Urowitz2, Dominique Ibanez2, Carolina Landolt-Marticorena3, Joan E. Wither4 and Dafna D. Gladman2, 1Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 2Division of Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 3Rheumatology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada, 41E420/Div of Rheumatology, Toronto Western Research Institute, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada

    Background/Purpose: Interferon-α (IFN-α) plays a prominent pro-inflammatory role in SLE. Studies suggest clinical/serologic discordance may illuminate systemic lupus erythematosus (SLE) pathophysiology, as peripheral IFN-α production…
  • Abstract Number: 1904 • 2013 ACR/ARHP Annual Meeting

    Gene Expression In Whole Blood Predicts The Abatacept–Methotrexate Combination Responsiveness In Rheumatoid Arthritis: Preliminary Results From The Power Doppler Ultrasonography IM101-179 Study

    T Lequerré1, C Derambure1, Maria-Antonietta d'Agostino2, M Hiron3, P Gaudin4, C Gaillez5, M Le Bars6 and O Vittecoq1, 1Rouen University Hospital & Inserm U905, Rouen, France, 2AP-HP Ambroise Paré Hospital, Boulogne-Billancourt, France, 3Rouen University Hospital & Inserm, Rouen, France, 4CHU Hôpital Sud, Grenoble, France, 5Bristol-Myers Squibb, Rueil Malmaison, France, 6Bristol-Myers Squibb, Rueil-Malmaison, France

    Background/Purpose: The overall response rate (defined as low disease activity [LDA] related to DAS28[CRP]) to abatacept associated with MTX was 57.1% at 6 months in…
  • Abstract Number: 1396 • 2013 ACR/ARHP Annual Meeting

    Survivin–positivity Increases Risk For RA and Has a Strong Additive Effect On The Shared Epitope Alleles and Antibodies To Citrullinated Peptides In Patients Of The Malaysian Epidemiological Investigation Of Rheumatoid Arthritis (MyEIRA) Study Group

    Chun Lai Too1, Shahnaz Murad2, Malin Erlandsson3, Heselynn Hussein4, Wahinuddin Sulaiman5, Jasbir Singh Dhaliwal1 and Maria Bokarewa3, 1Institute for Medical Research, Allergy and Immunology Research Center, Jalan Pahang, Kuala Lumpur, Malaysia, 2Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia, 3Rheumatology and Inflammation Research, University of Gothenburg, Gothenburg, Sweden, 4Department of Medicine, Putrajaya Hospital, Putrajaya, Malaysia, 5Department of Medicine, Tengku Bainun Hospital, Ipoh, Perak, Malaysia

    Background/Purpose: The human leukocyte antigen (HLA)-DRB1 with alleles that contain common amino acid motif QKRAA termed shared epitope (SE) confer the major locus of genetic…
  • Abstract Number: 1202 • 2013 ACR/ARHP Annual Meeting

    Two Family Kindreds With Blau’s Syndrome Associated With Unusual NOD2 Mutations

    Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH

    Background/Purpose: The aim of this study was to report families of Blau’s syndrome with unusual NOD2 gene variants. Methods: Two proband patients were seen, and their clinical…
  • Abstract Number: 1201 • 2013 ACR/ARHP Annual Meeting

    A Progress Report On An Emerging Disease: NOD2-Associated Autoinflammatory Disease

    Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH

    Background/Purpose: We recently reported a new disease designated as NOD2-associated autoinflammatory disease (NAID). The aim of this study was to update the progress on defining the disease. Methods: A…
  • Abstract Number: 1211 • 2013 ACR/ARHP Annual Meeting

    Adult Autoinflammatory Phenotypes Associated With Heterozygous MEFV Mutations: A Continuum of Familial Mediterranean Fever?

    Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH

    Background/Purpose: Familial Mediterranean fever (FMF) is traditionally regarded as an autosomal recessive disease characterized by periodic fever, serositis, erysipelas-like erythema and good response to colchicine. The…
  • Abstract Number: 687 • 2013 ACR/ARHP Annual Meeting

    Role Of Class II Human Leukocyte Antigens In The Progression From Early To Definite Systemic Sclerosis

    Barbara Vigone1, Alessandro Santaniello2, Maurizio Marchini1, Gaia Montanelli1, Monica Caronni1, Adriana Severino1, Stefania Celeste1 and Lorenzo Beretta3, 1Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy, 2Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 3Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy

    Background/Purpose:  Criteria for the diagnosis of Early Systemic Sclerosis (EaSSc) have been formalized by LeRoy and Medsger in 2001 and later validated by Koenig et…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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