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Abstracts tagged "Genome Wide Association Studies"

  • Abstract Number: 1525 • ACR Convergence 2020

    Intergenic HLA Variants in African American Patients with Systemic Sclerosis Regulate Expression of HLA-DRB1

    Urvashi Kaundal1, Julia Hartman2, Chloe Borden2, Janet Wang3, Ami Shah4, Maureen Mayes5, Ayo Doumatey6, Amy Bentley7, Daniel Shriner6, Robyn Domsic8, Thomas Medsger9, Paula Ramos10, Richard Silver11, Virginia Steen12, John Varga13, Vivien Hsu14, Lesley Ann Saketkoo15, Elena Schiopu16, Dinesh Khanna17, Jessica Gordon18, Lindsey Criswell19, Heather Gladue20, Chris Derk21, Elana Bernstein22, S. Louis Bridges23, Victoria Shanmugam24, Kathleen Kolstad25, Lorinda Chung26, Suzanne Kafaja27, Reem Jan28, Marcin Trojanowski29, Avram Goldberg30, Benjamin Korman31, Monique Hinchcliff32, Settara Chandrasekharappa6, Massimo Gadina2, Davide Randazzo2, Stefania Dell'Orso2, Adebowale Adeyemo6, Charles Rotimi6, Elaine Remmers6, Fredrick Wigley33, Rafael Casellas2, Daniel Kastner6, Francesco Boin34 and Pravitt Gourh1, 1National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, 2National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, 3National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Beachwood, OH, 4Johns Hopkins University School of Medicine, Ellicott City, MD, 5University of Texas Houston McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX, 6National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, 7National Human Genome Research Institute (NHGRI), NIH, Bethedsa, MD, 8University of Pittsburgh School of Medicine, Pittsburgh, PA, 9University of Pittsburgh School of Medicine, Verona, PA, 10Medical University of South Carolina, Charleston, SC, 11Medical University of South Carolina, Charleston, 12Division of Rheumatology, Department of Medicine, MedStar Georgetown University Hospital, Washington, DC, 13Northwestern University, Chicago, IL, 14Rutgers-RWJ Medical School, South Plainfield, NJ, 15Scleroderma Patient Care and Research Center, Tulane University, New Orleans, LA, 16Michigan Medicine, Ann Arbor, MI, 17University of Michigan, Ann Arbor, MI, 18Hospital for Special Surgery, New York, NY, 19Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA, 20Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, 21University of Pennsylvania, Philadelphia, PA, 22Columbia University, New York, NY, 23University of Alabama at Birmingham, Mountain Brk, AL, 24The George Washington University, Washington, DC, 25Division of Immunology & Rheumatology, Stanford University School of Medicine, Palo Alto, CA, 26Stanford University School of Medicine and Palo Alto VA Health Care System, Palo Alto, CA, 27David Geffen School of Medicine, UCLA, Los Angeles, CA, 28Pritzker School of Medicine, University of Chicago, Chicago, IL, 29Boston University Medical Center, BOSTON, MA, 30NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, 31Department of Medicine, University of Rochester Medical Center, Rochester, NY, 32Yale School of Medicine, Westport, CT, 33Johns Hopkins University School of Medicine, Baltimore, MD, 34University of California San Francisco, Cedars-Sinai, West Hollywood, CA

    Background/Purpose: Genome-wide association study (GWAS) from the Genome Research in African American Scleroderma Patients (GRASP) cohort has identified the human leukocyte antigen (HLA) region as…
  • Abstract Number: 1669 • ACR Convergence 2020

    Genetics of Age at Diagnosis in Systemic Lupus Erythematosus

    Raffaella Carlomagno1, Fangming Liao2, JingJing Cao2, Dafna Gladman3, Marisa Klein-Gitelman4, Andrea Knight5, Deborah Levy1, Karen Onel6, Andrew Paterson2, Christine Peschken7, Janet Pope8, Zahi Touma9, Murray Urowitz10, Declan Webber1, Joan Wither11, Earl D. Silverman12 and Linda Hiraki13, 1Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 2Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, 3Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, 4Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, 5Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 6Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, 7Departments of Medicine and Community Health Sciences, University of Manitoba, Winnipeg, MB, Canada, 8Department of Medicine, University of Western Ontario, St. Joseph's Health Centre, London, ON, Canada, 9University of Toronto, Toronto, ON, Canada, 10University Health Network, University of Toronto, Toronto, ON, Canada, 11University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, 12Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, 13Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada

    Background/Purpose: Genome wide association studies (GWAS) have identified >90 SNPs associated with systemic lupus erythematosus (SLE) risk. However, there may be additional loci impacting the…
  • Abstract Number: 1860 • ACR Convergence 2020

    An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology

    Sara Rahmati1, Quan Li1, Dafna Gladman2, Proton Rahman3 and Vinod Chandran2, 1University Health Network, Toronto, ON, Canada, 2Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, 3Memorial University of Newfoundland, Department of Medicine, St John's, Canada

    Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
  • Abstract Number: 1954 • ACR Convergence 2020

    Genome-wide Association Study of Sjögren’s Syndrome Identifies Ten New Risk Loci

    Bhuwan Khatri1, Tove Ragna Reksten2, Kandice Tessneer3, Astrid Rasmussen1, R. Scofield1, Simon Bowman4, Joel Guthridge1, Judith James5, Lars Ronnblom6, Blake Warner7, Xavier Mariette8, Roald Omdal9, Javier Martin10, Maria Teruel10, Janicke Liaaen Jensen11, Lara Aqrawi11, Øyvind Palm11, Marie Wahren-Herlenius12, Torsten Witte13, Roland Jonsson14, Maureen Rischmueller15, A Darise Farris1, Marta Alarcon-Riquelme10, Wan-Fai Ng16, Kathy Sivils1, Gunnel Nordmark17 and Christopher Lessard1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2University of Bergen, Bergen, Norway, 3Oklahoma Medical Research Foundation, Oklahoma City, 4University Hospitals Birmingham, Birmingham, United Kingdom, 5Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, 6Uppsala University, Uppsala, Sweden, 7National Institute of Dental and Craniofacial Research, Bethesda, 8Paris-Sud University, Rueil-Malmaison, France, 9University of Oslo, Stavanger, Norway, 10Center for Genomics and Oncological Research (GENYO), Granada, Spain, 11University of Oslo, Oslo, Norway, 12Karolinska Institute, Stockholm, Sweden, 13Medizinische Hochschule Hannover, Klinik für Rheumatologie und Immunologie und Regionales Kooperatives Rheumazentrum Niedersachsen e.V., Hannover, Germany, 14Haukeland University Hospital, Bergen, Norway, 15The Queen Elizabeth Hospital and Univ of Adelaide, St Peters, South Australia, Australia, 16Newcastle University, Gateshead, United Kingdom, 17Uppsala University, Copenhagen S, Sweden

    Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with exocrine gland dysfunction leading to substantial morbidity, and 10 published genetic susceptibility loci. Our genome-wide…
  • Abstract Number: 1955 • ACR Convergence 2020

    High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus

    Qiang Wang1, Marta Martínez2, Matthew Weirauch3 and Peter Nigrovic4, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital, Boston, 3Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, 4Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston

    Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
  • Abstract Number: 0039 • ACR Convergence 2020

    Identification of a Regulatory Pathway Governing Expression of TRAF1 via a JIA-associated Non-coding Variant

    Qiang Wang1, Marta Martínez2, Matthew Weirauch3 and Peter Nigrovic4, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital, Boston, 3Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, 4Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston

    Background/Purpose: Over the past decade, genome-wide association studies (GWAS) have identified TRAF1/C5 locus as a risk locus for rheumatoid diseases including RA and JIA(Plenge, Seielstad…
  • Abstract Number: 0041 • ACR Convergence 2020

    Association of the RPA3-UMAD1 Locus with Interstitial Lung Diseases Complicated with Rheumatoid Arthritis in Japanese

    Yuya Shirai1, Suguru Honda2, Katsunori Ikari3, Masahiro Kanai4, Yoshito Takeda5, Yoichiro Kamatani6, Takayuki Morisaki7, Eiichi Tanaka8, Atsushi Kumanogoh9, Masayoshi Harigai10 and Yukinori Okada11, 1Osaka university, Suita, Japan, 2Tokyo Women's Medical University, Tokyo, Japan, 3Tokyo Women's Medical University, Shinjuku, Japan, 4Harvard Medical School, Boston, 5Osaka university, Osaka, 6Graduate School of Frontier Sciences, the University of Tokyo, Tokyo, Japan, 7The institute of Medical Science, the University of Tokyo, Tokyo, Japan, 8Department of Rheumatology, Tokyo Women’s Medical University School of Medicine, Tokyo, Japan, 9Osaka university, Osaka, Japan, 10Department of Rheumatology, Tokyo Women’s Medical University School of Medicine, Shinjuku-ku, Tokyo, Japan, 11Osaka University Graduate School of Medicine, Osaka, Japan

    Background/Purpose: The genetic background of rheumatoid arthritis-interstitial lung disease (RA-ILD) has been evaluated in Europeans, but little knowledge has been obtained in non-Europeans. In particular,…
  • Abstract Number: 0174 • ACR Convergence 2020

    Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis

    Emily Shuldiner1, Elaine Remmers2, Miranda Marion3, Marc Sudman4, Colleen Satorius5, Patricia Woo6, Sampath Prahalad7, Carl Langefeld8, Susan Thompson9, Wendy Thomson10 and Michael Ombrello11, 1NIAMS, NIH, Bethesda, 2National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, 3Wake Forest School of Medicine, Winston-Salem, 4Cincinnati Children's Hospital Medical Center, Cincinnati, 5NHGRI, NIH, Bethesda, 6Great Ormond Street Hospital, London, United Kingdom, 7Emory + Children's Pediatric Institute, Atlanta, GA, 8Wake Forest School of Medicine, Winston Salem, NC, 9Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, 10Centre for Genetics and Genomics Versus Arthritis, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 11Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
  • Abstract Number: 0301 • ACR Convergence 2020

    Genetic Associations and Polygenic Risk Assessment in Incomplete Lupus Erythematosus

    Matthew Slief1, Jeremy Levin2, Susan Macwana1, Wade DeJager1, Rebecka Bourn3, Swapan Nath3, Melissa Munroe4, Teresa Aberle1, Patrick Gaffney5, Joan Merrill3, Judith James6 and Joel Guthridge1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2OU Medical Center, Oklahoma City, 3Oklahoma Medical Research Foundation, Oklahoma City, 4Oklahoma Medical Research Foundation/Progentec Diagnostics, Inc., Oklahoma City, OK, 5Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK

    Background/Purpose: Patients with incomplete lupus erythematosus (ILE) have features of lupus, but have insufficient criteria for SLE classification. Some ILE patients transition to classified SLE,…
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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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