ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 986 • 2012 ACR/ARHP Annual Meeting

    Genome Wide Association Studies of Knee Osteoarthritis in 2 Large North American Cohorts: A Meta-Analysis with 2667 Cases

    Marc C. Hochberg1, Laura Yerges-Armstrong2, Changwan (Larry) Lu3, Michelle S. Yau4, Braxton D. Mitchell2, Joanne M. Jordan5, Youfang Liu6, Jordan B. Renner7, T. McSherry8, D.M. Taverna8, David Duggan9, W.J. Mysiw10 and Rebecca D. Jackson10, 1Department of Medicine, University of Maryland, Baltimore, MD, 2Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, 3University of Maryland School of Medicine, Baltimore, MD, 4University of Maryland, Baltimore, MD, 5Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, 6University of North Carolina, Chapel Hill, NC, 7University of North Carolina Department of Radiology, Chapel Hill, NC, 8TGen, Pheonix, AZ, 9Translational Genomics Research Institute, Phoenix, AZ, 10Ohio State University, Columbus, OH

    Background/Purpose: A strong genetic contribution to knee osteoarthritis (OA) is widely recognized although few loci have been robustly associated with knee OA susceptibility. To identify…
  • Abstract Number: 2274 • 2012 ACR/ARHP Annual Meeting

    Genes Associated with Systemic Lupus Erythematosus Show Evidence of Selection in the Gullah African American Population

    Paula S. Ramos1, Satria Sajuthi2, Yiqi Huang3, Diane L. Kamen4, Jasmin Divers2, Kenneth M. Kaufman5, John B. Harley6, Robert P. Kimberly7, Carl D. Langefeld2, Michèle M. Sale3, W. Timothy Garvey8 and Gary S. Gilkeson9, 1Department of Medicine, Medical University of South Carolina, Charleston, SC, 2Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 3Department of Medicine and Center for Public Health Genomics, University of Virginia, Charlottesville, VA, 4Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, 51Center for Autoimmune Genomics and Etiology and Rheumatology Division, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati, Cincinnati, OH, 6Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 7Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 8Department of Nutrition Sciences and Birmingham VA Medical Center, University of Alabama at Birmingham, Birmingham, AL, 9Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC

    Background/Purpose: In spite of its higher prevalence and severity, little is known about the genetic etiology of systemic lupus erythematosus (SLE) in African Americans (AA).…
  • Abstract Number: 974 • 2012 ACR/ARHP Annual Meeting

    Identification of Susceptibility Loci for Inflammatory Arthritis

    K. J. A. Steel1, Anne Hinks2, John Bowes3, Joanna Cobb2, Edward Flynn4, Carl D. Langefeld5, Sampath Prahalad6, Johannes Peter Haas7, John F. Bohnsack8, Stephen Guthery8, Anne Barton1, Susan D. Thompson9 and Wendy Thomson1, 1Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom, 2Arthritis Research UK Epidemiology Unit, Manchester Academic Health Sciences Centre, Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, 3Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, 4Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, 5Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 6Pediatrics, Emory Children's Center, Atlanta, GA, 7Childrens Hospital, Erlangen, Germany, 8Department of Pediatrics,, University of Utah, Salt Lake City, 9Department of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: One of the principal findings of genome wide association studies in autoimmune diseases has been the substantial overlap of genetic susceptibility loci identified. This…
  • Abstract Number: 2279 • 2012 ACR/ARHP Annual Meeting

    Genetic Markers for Circulating Vitamin D and the Associations with Risk of Systemic Lupus Erythematosus

    Linda T. Hiraki1, Adrienne H. Williams2, Arun-Prasad Manoharan3, Peter Kraft4, Carl D. Langefeld5, Robert R. Graham6 and Elizabeth W. Karlson7, 1Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard School of Public Health, Boston, MA, 2Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 3Genentech, Inc., 4Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, 5Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 6ITGR Human Genetics, Genentech, Inc., South San Francisco, CA, 7Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

    Background/Purpose: Systemic lupus erythematosus (SLE) is a complex, life threatening autoimmune disease and a presumed consequence of susceptibility genes interacting with environmental exposures. Vitamin D…
  • Abstract Number: 894 • 2012 ACR/ARHP Annual Meeting

    Genetic Variants in the IL-4 and IL-4 Receptor Genes in Association with the Severity of Joint Damage in Rheumatoid Arthritis: A Study in Seven Cohorts

    A. Krabben1, A. G. Wilson2, R. Knevel1, A. Zhernakova3, E. Brouwer3, E. Lindqvist4, T. Saxne4, G. Stoeken-Rijsbergen1, J. A. B. van Nies1, D. P. C. de Rooy1, T.W.J. Huizinga1, B. P. C. Koeleman5, R. E. M. Toes1, P. K. Gregersen6 and A. H. M. van der Helm-van Mil1, 1Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 2Infection & Immunity, University of Sheffield, Sheffield, United Kingdom, 3Rheumatology and Clinical Immunology, University of Groningen, University Medical Center, Groningen, Netherlands, 4Rheumatology, Lund University, Lund, Sweden, 5Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, 6Genomics and Human Genetics, Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY

    Background/Purpose: The severity of RA is reflected by the severity of radiological joint destruction. It is highly variable between patients and up to 58% of…
  • 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…
  • Abstract Number: 433 • 2012 ACR/ARHP Annual Meeting

    Genome Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with Anti-TNF Medication. Results of the DREAM and Danbio Registries

    Marieke J.H. Coenen1, Masha Umicevic-Mirkov2, Hans Scheffer2, Sophine B. Krintel3, Sita H. Vermeulen4, Julia S. Johansen3, Wietske Kievit5, Mart A.F.J. van de Laar6, Piet L.C.M. van Riel5, Barbara Franke2 and Merete L. Hetland7, 1Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 2Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 3DANBIO and Department of Rheumatology, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, 4Human Genetics and Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 5Department of Rheumatology and DREAM registry, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6Department of Rheumatology and DREAM registry, Medisch Spectrum Twente & Twente University, Enschede, Netherlands, 7Copenhagen University Hospital Glostrup, Copenhagen, Denmark

    Background/Purpose: Patients with rheumatoid arthritis (RA)  rate pain relief as the highest priority in treatment outcome, and tumor necrosis factor inhibitors (anti-TNF) have proven very…
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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.

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