ACR Meeting Abstracts

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  • Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting

    Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter

    David B. Mount1,2, Tony R. Merriman3, Eli A. Stahl4, Hyon K. Choi5 and Asim Mandal1, 1Renal Division, Brigham and Women's Hospital, Boston, MA, 2Renal Division, VA Boston Healthcare System, Boston, MA, 3Department of Biochemistry, University of Otago, Dunedin, New Zealand, 4Mt Sinai School of Medicine, New York City, NY, 5Boston University School of Medicine, Boston, MA

    Background/Purpose: Variation in SLC2A9, which encodes the urate transporter GLUT9, is the major single genetic determinant of serum uric acid (SUA); however, the causal variant(s)…
  • Abstract Number: 1135 • 2014 ACR/ARHP Annual Meeting

    Genes Involved in Cartilage Synthesis and Risk to Knee Osteoarthritis

    Abhishek Mishra Sr., Rajeshwar Srivastava II, Divya Sanghi III, Ajai Singh IV and Devendra Parmar V, Deptt of Orthopaedic Surgery, King George's Medical University,, Lucknow, India

    Background/Purpose  Osteoarthritis (OA), characterized by gradual loss of articular cartilage in the joint, is a leading cause of disability among the elderly people. Though the…
  • Abstract Number: 1134 • 2014 ACR/ARHP Annual Meeting

    Role of NOD2 Pathway in Sarcoidosis Cases with Characteristics of Blau Syndrome

    Gerard Dumancas1, Indra Adrianto2, Albert M. Levin3, Michael C. Iannuzzi4, Benjamin A. Rybicki3 and Courtney Montgomery5, 1Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 2825 Ne 13th St. Ms 57, Oklahoma Medical Research Foundation, Oklahoma City, OK, 3Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, 4Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, 5Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad symptoms of symmetric arthritis, dermatitis, and granulomatous recurrent uveitis,…
  • Abstract Number: 1133 • 2014 ACR/ARHP Annual Meeting

    Genetic Variants Influencing Joint Damage in Mexican Americans and European Americans with Rheumatoid Arthritis

    Rector Arya1, del Rincon Inmaculada2, Vidya S Farook3, Jose Felix Restrepo4, Deidre A Winnier5, Marcel J Fourcaudot2, Daniel Battafarano6, Satish Kumar7, Marcio AA de Almeida3, Joanne E Curran7, Christopher P Jenkinson5, John Blangero3, Ravindranath Duggirala7 and Agustin Escalante4,8,9, 1Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, 2Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX, 3Genetics, Texas Biomedical Research Institute, San Antonio, TX, 4Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, 5University of Texas Health Science Center at San Antonio, San Antonio, TX, 6Rheumatology, San Antonio Military Medical Center, JBSA - Ft Sam Houston, TX, 7Texas Biomedical Research Institute, San Antonio, TX, 8Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, 9Dept. of Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX

    Background/Purpose: Joint damage in rheumatoid arthritis (RA) has been shown to be heritable, but knowledge on specific genetic determinants of joint damage in RA is…
  • Abstract Number: 1132 • 2014 ACR/ARHP Annual Meeting

    A Novel Epigenetic Mark, Histone H1 Fucosylation, Orchestrates Macrophage Differentiation and Plasticity By Remodeling the Enhancer Landscape in Rheumatoid Arthritis

    Jun Li1, Keith Giles2, Parastoo Azadi3, Mayumi Ishihara3, PingAr Yang1, Qi Wu1, Bao Luo1, David M. Spalding4, James A Mobley5, S. Louis Bridges Jr.6,7, Hui-Chen Hsu1 and John D. Mountz1,8, 1Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 2University of Alabama at Birmingham, Stem cell Institute, Birmingham, AL, 3University of Georgia, Complex Carbohydrate Research Center, Athens, GA, 4University of Alabama at Birmingham, Division of Clinical Immunology & Rheumatology, Birmingham, AL, 5University of Alabama at Birmingham, Comprehensive Cancer Center Mass Spectrometry/Proteomics Facility, Birmingham, AL, 6University of Alabama at Birmingham, Birmingham, AL, 7Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 8Birmingham VA Medical Center, Birmingham, AL

    Background/Purpose There is an imbalance of inflammatory M1 vs. anti-inflammatory M2 macrophages (MΦs) in rheumatoid arthritis (RA). The epigenetic codes underlying this M1 dominating pathogenesis…
  • Abstract Number: 1131 • 2014 ACR/ARHP Annual Meeting

    Identification of Genetic Variants Associated with Response to Adalimumab Plus Methotrexate in Patients with Early Rheumatoid Arthritis

    Alla Skapenko1, Hendrik Schulze-Koops1, Viswanath Devanarayan2, Kenneth Idler3, Feng Hong4, Josef Smolen5, Arthur Kavanaugh6, Hartmut Kupper7 and Jeffrey F. Waring3, 1Division of Rheumatology and Clinical Immunology, University of Munich, Munich, Germany, 2AbbVie Bioresearch Center, Worcester, MA, 3AbbVie Inc., North Chicago, IL, 4AbbVie Bioresearch Center, Worchester, MA, 5Medical University of Vienna and Hietzing Hospital, Vienna, Austria, 6University of California San Diego, La Jolla, CA, 7AbbVie Deutschland GmbH & Co. KG, Ludwigshafen, Germany

    Background/Purpose: For patients with rheumatoid arthritis (RA) who fail to attain remission or low disease activity after 6 months of methotrexate (MTX) treatment, TNF inhibitors…
  • Abstract Number: 1130 • 2014 ACR/ARHP Annual Meeting

    IRF8 Gene Contributes to Disease Susceptibility and Interacts with NF-KB By Modulating Interferon Signature in Patients with Systemic Sclerosis

    Maria Arismendi1,2, Matthieu Giraud1, Nadira Ruzehaji1, Philippe Dieude3, Eugénie Koumakis4, Barbara Ruiz5, Paolo Airo6, Daniele Cusi7, Marco Matucci-Cerinic8, Erika Salvi9, Giovanna Cuomo10, Eric Hachulla11, Elizabeth Diot12, Paola Caramaschi13, Valeria Riccieri14, Jerome Avouac15, Cristiane Kayser16 and Yannick Allanore17, 1INSERM U1016, Paris Descartes University, Paris, France, 2Department of Rheumatology, Federal University of São Paulo, São Paulo, Brazil, 3Rhumatologie, Hopital Bichat Claude Bernard, Paris, France, 4Rheumatology A department, Cochin Hospital, Paris Descartes University, Rheumatology A department, Cochin Hospital, Paris, France, 5Paris Descartes University, INSERM U1016, Institut Cochin, Sorbonne Paris Cité, Paris, France, 6Rheumatology and Clinical Immunology, Spedali Civili, AO Spedali Civili, Brescia, Italy, 7Department of Medicine, Surgery and Dentistry San Paolo & Genomics and Bioinformatics Platform, Fondazione Filarete, University of Milano, Milano, Italy, 8RAID working group for EULAR, Zurich, Switzerland, 9Department of Medicine, Surgery and Dentistry San Paolo & Genomics and Bioinformatics Platform, Fondazione Filarete, University of Milano, Milan, Italy, 10Department of Internal and Experimental Medicine, Second University of Naples, Naples, Italy, 11Faculté de Médecine Henri Warembourg, Université Lille Nord de France, Lille, France, 12Department of Internal Medicine, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours, Tours, France, Tours, France, 13Rheumatology Unit, Department of Medicine, Verona, Italy, 14Department of Internal Medicine and Medical Specialities, University Sapienza, Rome, Italy, 15Cochin Hospital, Paris, France, 16Rheumatology Division, Universidade Federal de São Paulo, São Paulo - SP, Brazil, 17Paris Descartes University, Rheumatology A Department and INSERM U1016, Cochin Hospital, Paris, France

    Background/Purpose . Systemic Sclerosis (SSc) is a polygenic autoimmune disease (AID) characterized by fibroblast dysregulation. It shares some genetic bases with other AIDs, as evidenced…
  • Abstract Number: 1129 • 2014 ACR/ARHP Annual Meeting

    FCGR2A Polymorphism and Response to Anti-TNF Treatment in Rheumatoid Arthritis

    G. Avila1, Jesús Tornero2, Antonio Fernandez Nebro3, Francisco Blanco4, Isidoro Gonzalez-Alvaro5, Juan D. Cañete6, Joan Maymo7, Javier Ballina8, Benjamin Fernandez Gutierrez9, Alejandro Olivé10, Hector Corominas11, Alba Erra12, Raül Tortosa1, María América López-Lasanta1, Adrìa Aterido1, Antonio Julia1 and Sara Marsal1, 1Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 2Hospital Universitario Guadalajara, Guadalajara, Spain, 3Rheumatology, Hospital Regional Carlos Haya, Biomedical Research Institute of Malaga (IBIMA), Malaga, Spain, 4Complejo Hospitalario Juan Canalejo, A Coruña, Spain, 5Servicio de Reumatología, Hospital Universitario de La Princesa, Madrid, Spain, 6Arthritis Unit. Rheumatology Department, Hospital Clínic of Barcelona, Barcelona, Spain, 7Rheumatology, Hospital del Mar, Barcelona, Spain, 8Rheumatology Department. Hospital Universitario Central de Asturias, Oviedo, Spain, 9Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 10Rheumatology, Hospital Universitario Germans Trias i Pujol, Badalona, Spain, 11Rheumatology, Hospital de Sant Joan Despí Moisès Broggi, Barcelona, Spain, 12Rheumatology Department, Hospital Sant Rafael, Barcelona, Spain

    Background/Purpose TNF-α inhibitors have significantly improved the prognosis of patients with Rheumatoid Arthritis (RA). Despite this, approximately 30% of patients fail to achieve a satisfactory…
  • Abstract Number: 1128 • 2014 ACR/ARHP Annual Meeting

    Regulation of PIWIL4 By Histone Modifications in Rheumatoid Arthritis

    Lenka Pleštilová1, Niharika Gaur1, Mária Filková2, Borbala Aradi-Vegh1, Ladislav Senolt3, Adrian Ciurea1, Renate E. Gay4, Jiri Vencovsky3, Michel Neidhart5, Steffen Gay5 and Astrid Juengel1, 1Center of Experimental Rheumatology, University Hospital Zurich, Zurich Schlieren, Switzerland, 2Institute of Rheumatology and Department of Rheumatology, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, 3Institute of Rheumatology and Clinic of Rheumatology, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, 4Center of Experimental Rheumatology, Zurich University Hospital, Zurich, Switzerland, 5Center of Experimental Rheumatology, University Hospital Zurich, Zurich, Switzerland

    Background/Purpose Analog to miRNAs that bind to argonaute proteins to suppress gene expression, a new group of non-coding RNAs piwi-interacting RNAs (piRNAs, 26-31 nt) build…
  • Abstract Number: 1127 • 2014 ACR/ARHP Annual Meeting

    Mass Spectrometry Imaging Revealed Potential Lipid Chondrogenic Biomarkers for Cell-Based Therapy in Cartilage

    Beatriz Rocha1, Berta Cillero-Pastor2, Gert Eijkel2, Valentina Calamia1, Lucia Lourido1, Carolina Fernández-Costa1, Patricia Fernandez-Puente1, Jesus Mateos1, Cristina Ruiz-Romero1,3, Ron MA Heeren2 and Francisco J. Blanco Garcia1, 1Grupo de Proteomica-PBR2-ProteoRed/ISCIII-Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006., A Coruña, Spain, 21Biomolecular Imaging Mass Spectrometry (BIMS) Molecular Nanophotonics Department, AMOLF, Amsterdam, Netherlands, 3CIBER-BBN, INIBIC-CHUAC, A Coruña, Spain

    Background/Purpose: Recent studies highlight the importance of lipid metabolism in the modulation of chondrogenesis. Specifically, the positive chondrogenic effect of acid ceramidase, which is necessary…
  • Abstract Number: 1125 • 2014 ACR/ARHP Annual Meeting

    The Mitochondrial Genome Influences the Risk of Incident Knee OA. DATA from the Osteoarthritis Initiative

    Angel Soto-Hermida1, Ignacio Rego-Pérez1, Juan Fernández-Tajes1, Mercedes Fernandez Moreno1, María Eugenia Vázquez-Mosquera1, Estefanía Cortés-Pereira1, Sonia Pértega-Díaz2, Natividad Oreiro-Villar1, Carlos Fernandez-Lopez1 and Francisco J. Blanco Garcia1, 1Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 2Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain

    Background/Purpose Previous studies by our group showed a significant influence of the mtDNA haplogroups on both radiographic progression and cartilage integrity of knee OA patients…
  • Abstract Number: 1126 • 2014 ACR/ARHP Annual Meeting

    Quantitative Proteomics (iTRAQ) Reveals Putative Biomarkers in Pre-Radiological Osteoarthritis

    Jesús Mateos1, Alejandra Pintor-Iglesias1, Patricia Fernandez-Puente2, Sara Relaño3, Ignacio Rego-Perez4, Carlos Fernández-López5, Natividad Oreiro6, Cristina Ruiz-Romero7 and Francisco J. Blanco Garcia4, 1Grupo de Proteomica-PBR2-ProteoRed/ISCIII Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006. A Coruña, Spain, A Coruña, Spain, 2Grupo de Proteomica-PBR2-ProteoRed/ISCIII Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006. A Coruña, Spain, A Coruna, Spain, 3Grupo de Genomica. RIER/ISCIII; Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006. A Coruña, Spain., A Coruña, Spain, 4Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 5INIBIC-Hospital Universitario A Coruña. Rheumatology Division. Genomic Group, A Coruña, Spain, 6Rheumatology Division, INIBIC-Complejo Hospitalario Universitario A Coruña (CHUAC), La Coruña, Spain, 7Grupo de Proteomica-PBR2-ProteoRed/ISCIII Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006 A Coruña, Spain, A Coruña, Spain

    Background/Purpose: In this study we have identified proteins differentially abundant in the serum of Osteoarthritis (OA) patients comparing four different progressive pathological grades using mass…
  • Abstract Number: 1124 • 2014 ACR/ARHP Annual Meeting

    Genome-Wide Profiling of DNA from Cartilage Reveals Regions Differently Methylated in Osteoarthritis Patients

    Guangju Zhai1, Ming Liu2, Yuhua Zhang1, Patricia E. Harper1, Erfan Aref-Eshghi2, Glynn Martin3, Andrew Furey3, Roger Green1, Guang Sun4 and Proton Rahman5, 1Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, 2Discipline of Genetics, Memorial University, St. John's, NF, Canada, 3Department of Surgery, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, 4Discipline of Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, 5Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada

    Background/Purpose: Osteoarthritis (OA) represents the most common form of arthritis and has substantial clinical and economic impact. Evidence supports that DNA methylation plays a significant…
  • Abstract Number: 1123 • 2014 ACR/ARHP Annual Meeting

    Impact of Genes Modulating Serum Low-Density Lipoprotein Cholesterol Levels on Progression of Joint Destruction in Japanese Patients with Rheumatoid Arthritis

    Shinji Yoshida1, Katsunori Ikari1, Koichiro Yano1, Yoshiaki Toyama2, Atsuo Taniguchi3, Hisashi Yamanaka1 and Shigeki Momohara3, 1Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 2Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan, 3Institute of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan

    Background/Purpose Patients with rheumatoid arthritis (RA) have a higher prevalence of dyslipidemia than healthy individuals. Since RA is a chronic inflammatory disease, an inflammatory response…
  • Abstract Number: 1122 • 2014 ACR/ARHP Annual Meeting

    Transmitocondrial Cybrids: A Tool to Study the Role of mtDNA Haplogroups in OA Pathogenesis

    Mercedes Fernandez Moreno1, Tamara Hermida-Gómez2, Angel Soto-Hermida1, Juan Fernández-Tajes1, María Eugenia Vázquez-Mosquera1, Estefanía Cortés-Pereira1, Sara Relaño-Fernandez1, Natividad Oreiro-Villar1, Carlos Fernandez-Lopez1, Esther Gallardo-Perez3, Rafael Garesse3, Ignacio Rego-Perez1 and Francisco J. Blanco Garcia1, 1Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 2Grupo de Bioingeniería Tisular y Terapia Celular (CBTTC-CHUAC). CIBER-BBN/ISCIII. Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de Coruña (CHUAC). SERGAS. Universidade de A Coruña, A Coruña, Spain, 3Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Departamento de Bioquímica, Instituto de Investigaciones Biomédicas, Madrid, Spain

    Background/Purpose Mitochondria play an important role in the OA pathogenesis. mtDNA haplogroup J is significantly associated with a lower risk of OA in northwest Spanish…
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