Abstracts tagged "Genome Wide Association Studies"

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,…
Abstract Number: 0982 • ACR Convergence 2020
Genetics of Avascular Necrosis in Children and Adults with Systemic Lupus Erythematosus
Declan Webber¹, JingJing Cao², Daniela Dominguez³, Dafna Gladman⁴, Andrea Knight⁵, Deborah Levy¹, Lawrence Ng⁶, Andrew Paterson², Zahi Touma⁷, Murray Urowitz⁸, Joan Wither⁹, Earl D. Silverman¹⁰ and Linda Hiraki¹¹, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁴Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁷University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network; Krembil Research Institute, Toronto, ON, Canada, ⁸University Health Network, University of Toronto, Toronto, ON, Canada, ⁹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹⁰Division 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, ¹¹Division 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: Genetics have been shown to contribute to risk of avascular necrosis (AVN), a debilitating complication of systemic lupus erythematosus (SLE). Our aim was to…
Abstract Number: 1008 • ACR Convergence 2020
Assessing Improved Risk Prediction of Seropositive Rheumatoid Arthritis by Environmental, Genetic, and Preclinical Plasma Metabolite Factors
Karen Costenbader¹, Jeffrey Sparks², Elizabeth Karlson³, Kazuki Yoshida⁴, Jing Cui⁵, Susan Malspeis⁶ and Lilia Bouzit⁷, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Division of Rheumatology, Inflammation, and Immunity; Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham & Women's Hospital and Harvard Medical School, Boston, MA, ⁵Brigham Women's Hospital, Boston, MA, ⁶Brigham and Women's Hospital, Boston, ⁷Harvard Chan School of Public Health, Boston, MA
Background/Purpose: Recent research has advanced the understanding of associations between environmental, genetic, and metabolic factors and rheumatoid arthritis (RA), introducing potential to improve risk prediction.…
Abstract Number: 1472 • ACR Convergence 2020
Assessing Causal Associations of Urate Levels with Type 2 Diabetes and Related Glycemic Traits Using Bidirectional Mendelian Randomization
Natalie McCormick¹, Mark O'Connor¹, Shelby Marozoff², John Choi³, Aaron Leong¹ and Hyon Choi⁴, ¹Massachusetts General Hospital, Boston, MA, ²Arthritis Research Canada, Vancouver, Canada, ³Massachusetts General Hospital, Boston, ⁴Massachusetts General Hospital, Department of Medicine, Division of Rheumatology, Lexington, MA
Background/Purpose: Type 2 diabetes (T2D) and gout/hyperuricemia frequently coexist, but the nature and direction of this relationship is unclear. Observational studies have reported positive associations…
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…

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