Abstracts tagged "Genome Wide Association Studies"

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…
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…

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.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].

ACR Abstract Embargo Policy

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying financial and other sponsors about this policy. If you have questions about the abstract embargo policy, please contact the public relations department at [email protected].

Copyright Policy

View ACR Policies.