ACR Meeting Abstracts

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  • Abstract Number: 94 • 2015 ACR/ARHP Annual Meeting

    NGS Panel for the Detection of Monogenic SLE in Children: Initial Results

    Alexandre Belot1, Gillian Rice2, Anne-Laure Mathieu1, Brigitte Bader-Meunier3, Thierry Walzer1, Tracy A. Briggs2, James O'Sullivan4, Simon Wiliams5, Michael W. Beresford6, Yanick Crow2,7 and GENIAL Investigators, UK JSLE Study Group, 1INSERM U1111, Lyon, France, 2Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom, 3Pediatric Rheumatology & Immunology, Necker hospital, Imagine Institution, Paris, France, 4University of Manchester, Manchester, United Kingdom, 5University of Manchester, Manchester, France, 6Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom, 7Neuroinflammation, Institut Imagine, Paris, France

    Background/Purpose: Next generation sequencing (NGS) represents a revolution in the field of molecular medicine, and offers a new approach to deciphering the pathogenesis of complex…
  • Abstract Number: 95 • 2015 ACR/ARHP Annual Meeting

    Validation of Differential Methylation in Paternally Versus Maternally Transmitted Psoriatic Disease

    Remy Pollock1, Darren O'Reilly2, Amanda Dohey2, Dianne Codner2, Vinod Chandran3, Dafna Gladman3 and Proton Rahman4, 1University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 2Memorial University of Newfoundland, St. John's, NF, Canada, 3Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 4Computer Sciences, Memorial University of Newfoundland, St. John's, NF, Canada

    Background/Purpose: Several studies have demonstrated excessive paternal transmission of psoriasis and psoriatic arthritis (PsA). This phenomenon is thought to be mediated by genomic imprinting. We…
  • Abstract Number: 96 • 2015 ACR/ARHP Annual Meeting

    The ABCG2 polymorphism Is Associated with Hyperuricemia in a Community-Based Korean Cohort

    Jae-Bum Jun1, Hye-Jin Jeong2, Chang-Nam Son3, Ji-Min Kim3, Sang-Hyon Kim3, So-Young Bang4 and Sang-Cheol Bae1, 1Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 2Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 3Division of Rheumatology, Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, South Korea, 4Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea

    Background/Purpose: Hyperuricemia is known as a risk factor of diverse diseases such as gout, hypertension, metabolic syndrome, diabetes mellitus, and cardiovascular diseases. Recent genome-wide association…
  • Abstract Number: 97 • 2015 ACR/ARHP Annual Meeting

    Genomic Sequencing of Uric Acid Metabolizing and Clearing Genes in Relationship to Xanthine Oxidase Inhibitor Dose

    Matthew Carroll1, Kristen Cook2 and Thomas Shaak3, 1Rheumatology, Keesler Medical Center, Keesler AFB, MS, 2Internal Medicine, Keesler Medical Center, Keesler AFB, MS, 3Clinical Research Laboratory, Keesler Medical Center, USAF, Keesler AFB, MS

    Background/Purpose: Effective long term uric acid lowering therapy with the xanthine oxidase inhibitors (XOI) allopurinol and febuxostat exists.  When compliant with therapy, it is unclear…
  • Abstract Number: 98 • 2015 ACR/ARHP Annual Meeting

    The Mitochondrial DNA (mtDNA) Haplogroups Influence the Risk of Incidence Knee OA. Replication Study Including Data from Check and OAI Cohorts

    Ignacio Rego-Pérez1, Angel Soto-Hermida1, Juan Fernandez-Tajes1, Mercedes Fernandez Moreno1, Maria Eugenia Vazquez Mosquera1, Estefanía Cortés-Pereira1, Sonia Pertega2, Sara Relaño-Fernandez1, Natividad Oreiro1, Carlos Fernandez-Lopez1 and Francisco J. Blanco1, 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 showed a significant influence of the mtDNA haplogroups on prevalence, radiographic progression and cartilage integrity of knee OA patients from different worldwide cohorts.…
  • Abstract Number: 99 • 2015 ACR/ARHP Annual Meeting

    Personalised Genetic Medicine: HLA-DRB1 Amino Acid Positions 11, 71 and 74 Predict Inflammation Level, Disease Activity and Disability in Rheumatoid Arthritis

    Stephanie Ling1, Sebastien Viatte2, Mark Lunt3, Alper van Sijl4, Lucía Silva Fernández4,5, Soumya Raychaudhuri2,6,7, Deborah P.M. Symmons4,8, Adam Young9,10, Alex J Macgregor11 and Anne Barton12, 1Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Mancheser Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 2Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 3Manchester Academic Health Sciences Centre, Arthritis Research UK Centre for Epidemiology, The University of Manchester, Manchester, United Kingdom, 4Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 5Rheumatology, Complexo Hospitalario Universitario de Ferrol, Ferrol, Spain, 6Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 7Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, 8Centre for Musculoskeletal Research, University of Manchester, Arthritis Research UK Centre for Epidemiology, Manchester, United Kingdom, 9Rheumatology, ERAS, St Albans City Hospital, St Albans, United Kingdom, 10School of Life & Medical Sciences, University of Hertfordshire, Hatfield, United Kingdom, 11School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, United Kingdom, 12Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom

    Background/Purpose: Amino acid (AA) positions 11, 71 and 74 inside HLA-DRB1 confer susceptibility to rheumatoid arthritis (RA). AAs from these positions form 16 haplotypes, hierarchically…
  • Abstract Number: 100 • 2015 ACR/ARHP Annual Meeting

    Validation of a Distinct Psoriatic Arthritis Risk Variant at IL23R

    Ashley Budu-Aggrey1,2, John Bowes1, Sabine Lohr3, Maria I. Zervou4, Philip S. Helliwell5, Anthony W. Ryan6, David Kane7, Eleanor Korendowych8, Emiliano Giardina9, Jonathon Packham10, Ross McManus6, Oliver FitzGerald11, Neil J McHugh8, Frank Behrens12, Harald Burkhardt12, Ulrike Huffmeier3, Javier Martín13, George Goulielmos4, Pauline Ho1,14, Andre Reis3 and Anne Barton1,2,14, 1Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester, United Kingdom, 2NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, 3Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany, 4Laboratory of Molecular Medicine and Human Genetics, Department of Internal Medicine, University of Crete, Heraklion, Greece, 5NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom, 6Department of Clinical Medicine, Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland, 7Adelaide and Meath Hospital and Trinity College Dublin, Dublin, United Kingdom, 8Royal National Hospital for Rheumatic Diseases and Dept Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, 9Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome 'Tor Vergata' and Fondazione PTV 'Policlinico Tor Vergata', Rome, Italy, 10Rheumatology department, Haywood Hospital, Health Services Research Unit, Institute of Science and Technology in Medicine, Keele University, Staffordshire, United Kingdom, 11Department of Rheumatology, St. Vincent’s University Hospital, UCD School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland, 12Division of Rheumatology and Fraunhofer IME-Project-Group Translational Medicine and Pharmacology, Goethe University, Frankfurt, Germany, 13Instituto de Biomedicina y Parasitología López-Neyra, Granada, Spain, 14The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, United Kingdom

    Background/Purpose: Psoriatic Arthritis (PsA) is an inflammatory arthritis that is associated with psoriasis. In the UK, it is estimated to present in approximately 14% of…
  • Abstract Number: 101 • 2015 ACR/ARHP Annual Meeting

    New Technologies for Typing Self-Identifying Antigens Encoded By HLA Genes Provide Cost-Effective Alternatives to Identifying B27 Allele Status in Rheumatoid Arthritis Subjects

    Kimberly Robasky1, Jatinder Kaur2, Jennifer Sims1, Melissa Howard1, Eric Earley1 and Eric Lai2, 1EA|Quintiles, Durham, NC, 2Takeda Pharmaceuticals International, Inc., Deerfield, IL

    Background/Purpose: Human leukocyte antigen (HLA) genes code for proteins that allow the immune system to distinguish self from foreign cells. These genes have important indications…
  • Abstract Number: 102 • 2015 ACR/ARHP Annual Meeting

    Xanthine Oxidase Gene Variants and Their Association with Blood Pressure and Incident Hypertension: A Population Based Study

    Lieke E.J.M. Scheepers1, Jan A. Staessen2,3, Lutgarde Thijs2, Erika Salvi4, Annelies Boonen5 and Ilja C.W. Arts6, 1Department of Internal Medicine, Division of Rheumatology, CAPHRI School for Public Health and Primary Care, Maastricht University Medical Centre, Maastricht, Netherlands, 2Studies Coordinating Centre, Research Unit Hypertension and Cardiovascular Epidemiology KU Leuven, Department of Cardiovascular Diseases, University of Leuven, Leuven, Belgium, 3R & D Group VitaK, Maastricht University, Maastricht, Netherlands, 4Department of Health Sciences, University of Milan, Milan, Italy, 5Department of Internal Medicine, Division of Rheumatology, Maastricht University Medical Center, Maastricht, Netherlands, 6Department of Epidemiology, CAPHRI School for Public Health and Primary Care, CARIM School for Cardiovascular Diseases, and MaCSBio Maastricht Centre for Systems Biology, Maastricht University, Maastricht, Netherlands

    Background/Purpose: Uric acid (UA) has been associated with blood pressure (BP) and hypertension. During the final stage of purine metabolism, xanthine oxidoreductase (XOR) breaks down…
  • Abstract Number: 103 • 2015 ACR/ARHP Annual Meeting

    Axial Disease in Psoriatic Arthritis: Genetic Biomarkers of Psoriatic Spondyloarthritis

    Deepak R. Jadon1, John Bowes2, Anne Barton3, Raj Sengupta1, Alison L Nightingale4, Mark Lindsay5, Eleanor Korendowych1, Graham Robinson6 and Neil J. McHugh7, 1Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, 2Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Centre for Musculoskeletal Research, Manchester, United Kingdom, 3Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom, 4Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, 5Pharmacy & Pharmacology, University of Bath, Bath, United Kingdom, 6Royal United Hospital, Bath, United Kingdom, 7Rheumatology, Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, United Kingdom

    Background/Purpose: A lack of well-characterised clinical cohorts has impeded research of the genetics of axial disease in psoriatic arthritis (PsA). We sought to determine genetic…
  • Abstract Number: 104 • 2015 ACR/ARHP Annual Meeting

    A Genome-Wide Association Study Identifies SLC8A3 As a Susceptibility Locus for ACPA-Positive Rheumatoid Arthritis

    Antonio Julià1, Isidoro González-Alvaro2, Antonio Fernandez-Nebro3, Francisco Blanco4, Benjamin Fernandez Gutierrez5, Antonio Gonzalez6, Juan D. Cañete7, Joan Maymo8, Mercedes Alperi-López9, Alejandro Olivé10, Hector Corominas11, Víctor Martínez Taboada12, Alba Erra13, Simon Sanchez Fernandez14, Arnald Alonso1, María López-Lasanta1, Raül Tortosa1, S. Louis Bridges Jr.15, Jesús Tornero16 and Sara Marsal17, 1Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 2Rheumatology Department, Hospital Universitario la Princesa, IIS-Princesa, Madrid, Spain, 3Rheumatology, Hospital Universitario Carlos Haya, Malaga, Spain, 4Rheumatology Division, Fundación Profesor Novoa Santos, A Coruna, Spain, 5Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 6H. Clinico Universtiario de Santiago, Santiago de Compostela, Spain, 7Unitat d’Artritis, Servei de Reumatologia, Hospital Clínic de Barcelona and Institut d’Investigacions Biomèdiques August Pí i Sunyer, Barcelona, Spain, 8H del Mar, Barcelona, Spain, 9Department of Rheumatology, Hospital Universitario Central de Asturias, Asturias, Spain, 10Hospital Germans Trias i Pujol, Badalona, Spain, 11Servei de Reumatologia, Hospital Moises Broggi, Barcelona, Spain, 12Rheumatology, Hospital Marqués de Valdecilla, Santander, Spain, 13CapiCAT group (Nailfold Capillaroscopy group from the Catalan Society for Rheumatology)., Catalonia, Spain, 14Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, 15Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 16Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, 17Rheumatology Research Unit, Vall d'Hebron Hospital, Barcelona, Spain

    Background/Purpose:  Rheumatoid Arthritis (RA) patients with serum anti-citrullinated peptide antibodies (ACPA) have a strong and specific genetic background. We performed a genome-wide association study (GWAS)…
  • Abstract Number: 105 • 2015 ACR/ARHP Annual Meeting

    Analysis of the Association of PTGER4 Gene Variants with Radiological Joint Damage in Rheumatoid Arthritis

    Luis Rodriguez-Rodriguez1,2, J. Ivorra-Cortes3, Francisco David Carmona4, Javier Martín5, Alejandro Balsa6, H.W. van Steenbergen7, A. H. M. van der Helm- van Mil8, Isidoro González-Alvaro9 and Benjamín Fernández-Gutiérrez10, 1Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain, 2Hospital Clínico San Carlos, Department of Rheumatology, Madrid, Spain, 3Rheumatology, University Hospital la Fe, Valencia, Spain, 4Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 5Instituto de Parasitología y Biomedicina López- Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 6Rheumatology, La Paz University Hospital-Rheumatology Department, Madrid, Spain, 7Leiden University Medical Center, Leiden, Netherlands, 8Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 9Rheumatology Department, Hospital Universitario la Princesa, IIS-Princesa, Madrid, Spain, 10Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain

    Background/Purpose: PTGER4(prostaglandin E receptor 4) is implicated in immune regulation and bone metabolism. The aim of this study was to analyze the role of single…
  • Abstract Number: 106 • 2015 ACR/ARHP Annual Meeting

    Does the Timing of Phenotype Assessment Influence Association Results in Pharmacogenetics Studies of Anti-TNF Response in Rheumatoid Arthritis?

    Kyoko Honne1, Nicholas Jewell2, Takeo Sakurai3, Masahiro Iwamoto4, Seiji Minota4 and Damini Jawaheer5, 1Division of Rheumatology and Clinical Immunology, Jichi Medical University, Shimotsuke, Japan, 2UC Berkeley, Berkeley, CA, 3Inoue Hospital, Takasaki, Japan, 4Department of Internal Medicine, Division of Rheumatology/Clinical Immunology, Jichi Medical University, Shimotsuke, Japan, 5Children's Hospital Oakland Research Institute, Oakland, CA

    Background/Purpose:  Pharmacogenetics studies of anti-tumor necrosis factor (TNF) response among patients with rheumatoid arthritis (RA) have routinely used assessment of response at a single time-point,…
  • Abstract Number: 107 • 2015 ACR/ARHP Annual Meeting

    FCGR3A-158V/F Polymorphism Is Associated with a Lower Response Rate to Tumor Necrosis Factor α Blockers in Early Axial Spondyloarthritis: Data from the DESIR Cohort

    Cécile LUXEMBOURGER1, Anna Molto2, Pascal Claudepierre3, Delphine Nigon1, Alain G. Cantagrel1, Maxime Dougados4, Arnaud CONSTANTIN1 and Adeline Ruyssen Witrand5, 1Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, 2Hopital Cochin, Paris Descartes University, Paris, France, 3Hôpital Henri Mondor, Créteil, France, 4Service de Rhumatologie B, GHU Cochin, F-75014 France, PARIS, France, 5Rheumatolgy, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France

    Background/Purpose: The rs396991 polymorphism of FCGR3A alters the Fcγ Receptor Type IIIA function by enhancing or diminishing the affinity to the Fc of immunoglobulins (1)…
  • Abstract Number: 108 • 2015 ACR/ARHP Annual Meeting

    A New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12

    F. Yesim Demirci1, Xingbin Wang1, Jennifer A. Kelly2, David L. Morris3, M. Michael Barmada1, Eleanor Feingold1, Amy H. Kao4, Kathy L. Sivils5, Sasha Bernatsky6, Christian A. Pineau6, Ann Clarke7, Rosalind Ramsey-Goldman8, Timothy Vyse9, Patrick M. Gaffney10, Susan Manzi11 and M. Ilyas Kamboh12, 1Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 2Arthritis & Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 3Department of Medical & Molecular Genetics, King's College London, London, United Kingdom, 4Lupus Center of Excellence, Department of Medicine, West Penn Allegheny Health System, Pittsburgh, PA, 5Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Divisions of Rheumatology and Clinical Epidemiology, McGill University Health Centre, Montreal, QC, Canada, 7Division of Rheumatology, Department of Medicine, University of Calgary, Calgary, AB, Canada, 8Northwestern University Feinberg School of Medicine, Chicago, IL, 9Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King's College London, London, United Kingdom, 10Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, 11Internal Medicine, West Penn Allegheny Health System, Pittsburgh, PA, 12Human Genetics, University of Pittsburgh, Pittsburgh, PA

    Background/Purpose: Genome-wide association studies (GWASs) and large follow-up studies in European-descent or Asian subjects have identified a number of susceptibility loci for systemic lupus erythematosus…
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