Abstracts tagged "genomics"

Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting
Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter
David B. Mount^1,2, 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: 782 • 2014 ACR/ARHP Annual Meeting
Temporal Artery Microbiome in Giant Cell Arteritis
Alison Clifford*¹, Pauline Funchain*^2,3,4, Lisa Lystad⁵, Charissa Peterson⁴, Jessica Altemus⁴, Gary S. Hoffman¹ and Charis Eng^2,3,4,6, ¹Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH, ²Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, OH, ³Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH, ⁴Genomic Medicine Institute, Lerner Research Institute, Cleveland, OH, ⁵Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, ⁶Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH
Background/Purpose: Whether infectious agents play a part in giant cell arteritis (GCA) remains controversial. We have performed the first microbiome study of snap-frozen temporal arteries,…
Abstract Number: 772 • 2014 ACR/ARHP Annual Meeting
RNA-Seq and Mir-Seq Analysis of SSc Skin Across Intrinsic Gene Expression Subsets Shows Differential Expression of Non-Coding RNAs Regulating SSc Gene Expression
Zhenghui Li¹, Eleni Marmarelis², Kun Qu³, Lionel Brooks⁴, Patricia Pioli⁴, Howard Chang³, Robert Lafyatis⁵ and Michael Whitfield⁴, ¹Department of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Stanford University School of Medicine, Stanford, CA, ⁴Geisel School of Medicine at Dartmouth, Hanover, NH, ⁵Arthritis Center, Boston University, Boston, MA
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease with a heterogenous and complex phenotype. Previously, our lab has identified four gene expression subsets (fibroproliferative,…
Abstract Number: 165 • 2013 ACR/ARHP Annual Meeting
New Insights Into The Metabolic Origin Of Osteoarthritis
Ignacio Rego-Pérez¹, María Eugenia Vázquez-Mosquera², Angel Soto-Hermida², Mercedes Fernández-Moreno², Juan Fernández-Tajes², Estefanía Cortés-Pereira², Sara Relaño-Fernández², Natividad Oreiro-Villar², Carlos Fernández-López² and Francisco J. Blanco^3,4,5, 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, ²INIBIC-Hospital Universitario A Coruña. Rheumatology Division. Genomic Group, A Coruña, Spain, ³INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ⁴CIBER-BBN-ISCIII, Madrid, Spain, ⁵Proteo-Red/ISCIII, Madrid, Spain
Background/Purpose: Metabolic alterations take place in osteoarthritis (OA) and the mtDNA haplogorups influence the prevalence and severity of the disease. The aim of this work…
Abstract Number: 1883 • 2013 ACR/ARHP Annual Meeting
Fine Mapping and Expression Of a Locus Overlapping 3 Types Of Inflammatory Arthritis
Kathryn J. A Steel¹, Anne Hinks¹, Annie Yarwood², Stephen Eyre³, Edward Flynn³, Paul Martin¹, Anne Barton^3,4 and Wendy Thomson^1,5, ¹Arthritis Research UK Epidemiology Unit, Manchester Academic Health Sciences Centre, Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, ²Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, Institute of Inflammation and repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ³Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom, ⁴NIHR Manchester Musculoskeletal BRU, Central Manchester Foundation Trust and University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁵Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom
Background/Purpose: In a recent fine-mapping study using the Immunochip array, the RUNX1 region was strongly associated with rheumatoid arthritis (RA p=5x10-10), juvenile idiopathic arthritis (JIA…
Abstract Number: 1702 • 2013 ACR/ARHP Annual Meeting
Identification of Multiple Genetic Susceptibility Loci in Takayasu’s Arteritis
Guher Saruhan-Direskeneli¹, Travis Hughes², Patrick S. Coit², Joel M. Guthridge³, Judith A. James⁴, Peter A. Merkel of behalf of the Vasculitis Clinical Research Consortium⁵, Haner Direskeneli on behalf of the Turkish Takayasu Study Group⁶ and Amr H. Sawalha², ¹Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ²Division of Rheumatology, University of Michigan, Ann Arbor, MI, ³Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ⁶Department of Rheumatology, Marmara University, Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Takayasu’s arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu’s arteritis remains poorly understood, but genetic contribution to the disease…
Abstract Number: 1633 • 2013 ACR/ARHP Annual Meeting
Sub-Phenotype Mapping In Systemic Lupus Erythematosus Identifies Multiple Novel Loci Associated With Circulating Interferon Alpha
Silvia Kariuki¹, Yogita Ghodke², Jessica M. Dorschner², Beverly Chrabot³, Jennifer A. Kelly⁴, Betty P. Tsao⁵, Robert P. Kimberly⁶, Marta E. Alarcon-Riquelme⁷, Chaim O. Jacob⁸, Lindsey A. Criswell⁹, Kathy L. Sivils¹⁰, Carl D. Langefeld¹¹, John B. Harley¹², Andrew D. Skol¹ and Timothy B. Niewold², ¹Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ⁴Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ⁶Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁷Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, Oklahoma City, OK, ⁸Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, ⁹Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹⁰Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹¹Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ¹²Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a phenotypically heterogeneous complex disease. Our previous work has documented significant genetic heterogeneity, with some well-validated risk factors demonstrating…
Abstract Number: 1634 • 2013 ACR/ARHP Annual Meeting
Genome-Wide Transcriptional Profiling Of Isolated Immune Cell Populations From SLE Patients With Different Ancestral Backgrounds
Shruti Sharma¹, Zhongbo Jin², Elizabeth Rosenzweig³, Swapna Rao⁴, Kichul Ko⁴ and Timothy B. Niewold², ¹Gwen Knapp Center for Lupus Research, University of Chicago, Chicago, IL, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ⁴Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex multi-system autoimmune disease of uncertain etiology. Different ancestral backgrounds demonstrate different clinical manifestations and autoantibody profiles. Whole…
Abstract Number: 1683 • 2012 ACR/ARHP Annual Meeting
Associations Between Lipid and Rheumatoid Arthritis Genetic Factors, and Low Density Lipoprotein Levels in RA Patients
Katherine P. Liao¹, Dorothee Diogo², Tianxi Cai³, Jing Cui⁴, Raul N. Guzman P.⁵, Vivian Gainer⁵, Shawn N. Murphy⁵, Susanne Churchill⁶, Isaac Kohane⁷, Elizabeth W. Karlson¹ and Robert M. Plenge⁸, ¹Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Biostatistics, Harvard School of Public Health, Boston, MA, ⁴Department of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, ⁵Research Computing, Partners Healthcare Systems, Boston, MA, ⁶Information Systems, Partners Healthcare Systems, Boston, MA, ⁷Medicine, Brigham and Women's Hospital, Boston, MA, ⁸Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Associations between lipid and rheumatoid arthritis genetic factors, and low density lipoprotein levels in RA patientsBackground/Purpose: In epidemiologic studies, low density lipoprotein (LDL), a major…
Abstract Number: 729 • 2012 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants Underlie Racial Disparities in Lupus Nephritis-Induced End-Stage Renal Disease
Robert P. Kimberly¹, Barry I. Freedman², Carl D. Langfeld³, Devin Absher⁴, Kelly K. Andringa¹, Daniel Birmingham⁵, Elizabeth E. Brown⁶, Mary E. Comeau⁷, Karen H. Costenbader⁸, Lindsey A. Criswell⁹, Jeffrey C. Edberg¹⁰, John B. Harley¹¹, Judith A. James¹², Diane L. Kamen¹³, Joan T. Merrill¹⁴, Timothy B. Niewold¹⁵, Neha Patel¹⁶, Michelle Petri¹⁷, Rosalind Ramsey-Goldman¹⁸, Jane E. Salmon¹⁹, Mark Segal²⁰, Kathy Moser Sivils¹², Betty P. Tsao²¹, Bruce A. Julian¹ and Lupus Nephritis-ESRD Consortium²², ¹Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ²Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, ³Department of Biostatistics, Wake Forest University Health Sciences, Winston-Salem, NC, ⁴HudsonAlpha Institute for Biotechnology, Huntsville, AL, ⁵Medicine, Ohio State University Medical Center, Columbus, OH, ⁶University of Alabama at Birmingham, Birmingham, AL, ⁷Wake Forest University Health Sciences, Winston-Salem, NC, ⁸Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁹Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹⁰Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ¹¹Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ¹²Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹³Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, ¹⁴Clinical Pharmacology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ¹⁶Rheumatology, SUNY Downstate Medical Center, Brooklyn, NY, ¹⁷Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁸Medicine/Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ¹⁹Rheumatology, Hospital for Special Surgery, New York, NY, ²⁰Medicine/Nephrology, University of Florida, Gainesville, FL, ²¹Medicine/Rheumatology, UCLA School of Medicine, Los Angeles, CA, ²²Medicine, Birmingham, AL
Background/Purpose: The G1 and G2 coding variants in the apolipoprotein L1 gene (APOL1; G1: a compound missense allele (glycine-342/methionine-384) and G2: an in-frame deletion (deletion…
Abstract Number: 1630 • 2012 ACR/ARHP Annual Meeting
Genetic Variants of Serum Uric Acid and Gout: An Analysis of > 170,000 Individuals
Hyon Choi¹, Robert M. Plenge², Anna Köttgen³, Veronique Vitart⁴, Murielle Bochud⁵, Christian Gieger⁶, Mark Caulfield⁷, Marina Ciullo⁸, Eva Albrecht⁶, Alexander Teumer⁹, Gary Curhan¹⁰, Jan Krumsiek¹¹, Conall O'Seaghdha¹², Caroline Fox¹³ and The Global Urate Genetics Consortium (GUGC)¹⁴, ¹Section of Rheumatology and the Clinical Epidemiology Unit, Boston University School of Medicine, Boston, MA, ²Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Renal Division, Freiburg University Hospital, Freiburg, Germany, ⁴Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom, ⁵Institute of Social and Preventive Medicine (IUMSP), Lausanne University Hospital, Switzerland, ⁶German Research Center for Environmental Health, Neuherberg, Germany, ⁷William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ⁸Institute of Genetics and Biophysics, "A. Buzzati-Traverso", Italy, ⁹Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt- University Greifswald, Greifswald, Germany, ¹⁰German Research Center for Environmental Health, Harvard Medical School, Boston, MA, ¹¹Institute of Bioinformatics and Systems Biology, German Research Center for Environmental Health, Neuherberg, Germany, ¹²German Research Center for Environmental Health, NHLBI's Framingham Heart Study and Center for Population Studies,, Neuherberg, ¹³Institute of Genetics and Biophysics, NHLBI's Framingham Heart Study and Center for Population Studies, Framingham, MA, ¹⁴Section of Rheumatology and the Clinical Epidemiology Unit, Boston University of School of Medicine, Boston, MA
Background/Purpose: Gout is a common and excruciatingly painful inflammatory arthritis caused by hyperuricemia. In addition to various lifestyle risk factors, a substantial genetic predisposition to…
Abstract Number: 660 • 2012 ACR/ARHP Annual Meeting
Abnormal Neutrophil Development in Human Systemic Lupus Erythematosus
Namrata Singh¹, Mariana J. Kaplan², Philip L. Cohen³ and Michael F. Denny³, ¹Internal Medicine, Temple University, Philadelphia, PA, ²Systemic Autoimmunity Branch, National Institutes of Health/NIAMS, Bethesda, MD, ³Rheumatology, Temple University, Philadelphia, PA
Background/Purpose: Recent research has increased the appreciation of the contributions of neutrophils to systemic lupus erythematosus (SLE). An abnormal circulating pool of granulocytes has been…
Abstract Number: 1475 • 2012 ACR/ARHP Annual Meeting
Does Skin Gene Expression Profile Predict Response to Imatinib?
Shervin Assassi¹, Jeffrey T. Chang², Dinesh Khanna³, Xiaochun Liu¹, Daniel Furst⁴ and Maureen D. Mayes⁵, ¹Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, ²University of Texas Health Science Center at Houston, Houston, TX, ³Division of Rheumatology, University of Michigan Medical Center, Ann Arbor, MI, ⁴David Geffen School of Medicine, Div of Rheumatology, University of California at Los Angeles, Los Angeles, CA, ⁵Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: Imatinib is a potent inhibitor of TGF-β signaling. Furthermore, a subgroup of SSc patients shows a prominent TGF-β gene expression signature in skin biopsy…
Abstract Number: 522 • 2012 ACR/ARHP Annual Meeting
Genetic Variation in the NCR3 Locus Is Associated with Anti-SSA⁄SSB Positive Primary Sjögren′s Syndrome in Scandinavian Samples
Gunnel Nordmark¹, Maija-Leena Eloranta¹, Per Eriksson², Elke Theander³, Helena Forsblad-d'Elia⁴, Roald Omdal⁵, Marie Wahren-Herlenius⁶, Roland Jonsson⁷ and Lars Rönnblom¹, ¹Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Rheumatology/AIR, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden, ³Dept of Rheumatology, Skane University Hospital, Lund University, Malmö, Sweden, ⁴Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden, ⁵Department of Internal Medicine, Stavanger university Hospital, Stavanger, Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, ⁶Dept of Medicine, Karolinska Institutet, Stockholm, Sweden, ⁷Broegelmann Research Laboratory, the Gade Institute, University of Bergen, Bergen, Norway
Background/Purpose: Candidate gene studies in primary Sjögren’s syndrome (pSS) have identified polymorphisms in genes involved in the type I interferon (IFN) system and the type…
Abstract Number: 1180 • 2012 ACR/ARHP Annual Meeting
The Sex-Determining Region Y Box 6 Locus: Shared Genetic Susceptibility Between Rheumatoid Arthritis and Psychotic Disorder
Tony R. Merriman¹, Nicola Dalbeth², Andrew Harrison³, John Highton⁴, Lisa K. Stamp⁵, Malcolm D. Smith⁶, Benedicte A. Lie⁷, Tore K. Kvien⁸, Timothy Radstake⁹, Marieke J.H. Coenen¹⁰, Barbara Franke¹¹, Jasper Broen¹², Piet Van Riel¹³, Pilar Barrera¹⁴, Sophia Steer¹⁵, Marilyn E. Merriman¹, Amanda Phipps-Green¹, Ruth Topless¹, Mansour Zamanpoor¹⁶ and Wan Rohani Wan Tain¹⁷, ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²Medicine, University of Auckland, Auckland, New Zealand, ³Rheumatology Unit, Hutt Hospital, Lower Hutt, New Zealand, ⁴Dept of Medicine, Univ of Otago Med Sch, Dunedin, New Zealand, ⁵Department of Medicine, University of Otago, Christchurch, Christchurch, New Zealand, ⁶Rheumatology Research Unit, Rheumatologist, Adelaide, Australia, ⁷Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ⁸Dept. of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway, ⁹Rheumatology, Radboud University Nijmegen Medical Centre, University Medical Center Utrecht, Nijmegen, Utrecht, Netherlands, ¹⁰Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹¹Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹²Department of Rheumatology & Clinical Immunology, University Medical Center, Utrecht, Netherlands, ¹³Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁴Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁵1 Sloane Ct East Flat 7, London, United Kingdom, ¹⁶University of Otago, Dunedin, New Zealand, ¹⁷Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Malaysia
Background/Purpose: Rheumatoid arthritis (RA) is a common autoimmune disease and schizophrenia (SZ) is a common psychotic disorder. There is an established negative association between RA…

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