ACR Meeting Abstracts

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Abstracts tagged "Genome Wide Association Studies"

  • Abstract Number: 0930 • ACR Convergence 2023

    Genetic Risk Profiles of Patients with Lupus Nephritis to Identify Those at Risk for Kidney Deterioration and Eventual Damage

    Aastha Khatiwada1, bethany wolf2, Isabelle Ayoub3, Juan Mejia-Vilet4, Ana Malvar5, Carl Langefeld6, Brad Rovin3, Jim Oates2 and Betty Tsao2, 1National Jewish Health, Denver, CO, 2Medical University of South Carolina, Charleston, SC, 3Ohio State University, Columbus, OH, 4Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico, 5Hospital Fernandez, Buenos Aires, Argentina, 6Wake Forest University School of Medicine, Winston-Salem, NC

    Background/Purpose: Many genetic variants are associated with lupus nephritis (LN). Yet, the majority of associated variants have a small effect size; hence, they convey small…
  • Abstract Number: 0958 • ACR Convergence 2023

    Shared Genetic Susceptibility Between Systemic Sclerosis and Primary Biliary Cholangitis: Analyses from Genome-Wide Association Studies

    Yiming Luo1, Atlas Khan2, Gabriel Perreault3, Lili Liu2, Cue Hyunkyu Lee4, Pravitt Gourh5, Sydney Pomenti3, Krzysztof Kiryluk2 and Elana Bernstein6, 1Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 2Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 3Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 4Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, 5National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 6Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY

    Background/Purpose: Systemic sclerosis (SSc) is a multi-system autoimmune disorder characterized by organ inflammation, fibrosis, and vasculopathy. Primary biliary cholangitis (PBC) is an autoimmune disorder involving…
  • Abstract Number: 1710 • ACR Convergence 2023

    Genetic Associations in Juvenile Idiopathic Arthritis Determined with an Electronic Health Record Based Approach

    Elizabeth Jasper, Srushti Gangireddy, Henry Ong, Jacklyn Hellwege, Todd Edwards, Digna Velez Edwards, Wei-Qi Wei and Anna Patrick, Vanderbilt University Medical Center, Nashville, TN

    Background/Purpose: Juvenile idiopathic arthritis (JIA) encompasses multiple forms of pediatric autoimmune arthritis. Research studies in JIA are complicated by disease heterogeneity and difficulties gathering large…
  • Abstract Number: 1833 • ACR Convergence 2023

    Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores

    Jeffrey Rosenfeld1, Greta Linse2, Sally Slipher2, Candace Flint3, Annie Iserson3, Herbert Harris4, Jean Engels3, Gregory Sullivan5 and Seth Lederman6, 1Tonix Pharmaceuticals, Chatham, NJ, 2Montana State University, Bozeman, MT, 3Tonix Pharmaceuticals, New York, NY, 4Tonix Pharmaceuticals, Chapel Hill, NC, 5Tonix Pharmaceuticals Inc, Chatham, NJ, 6Tonix Pharmaceuticals, South Dartmouth, MA

    Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…
  • Abstract Number: 0027 • ACR Convergence 2023

    Association of HLA-DRB1 and ANKRD55/IL6ST Regions with Polymyalgia Rheumatica Diagnosis: A Genome Wide Association Study from UK Biobank and FinnGen

    Mehmet Hocaoglu1, Jamal Mikdashi2, James Perry2 and Charles Hong2, 1University of Maryland School of Medicine, Pittsburgh, PA, 2University of Maryland School of Medicine, Baltimore, MD

    Background/Purpose: The existing literature on the genetics of polymyalgia rheumatica (PMR) is limited to candidate gene studies with small sample sizes. There is a need…
  • Abstract Number: 0034 • ACR Convergence 2023

    Genome-Wide Association Study for Loci Associated with Positive Antinuclear Antibodies in a Large Hospital Biobank

    Jing Cui1, Jeong Yee2, Liming Liang3, Jack Ellrodt2, Emily G. Oakes2, Hongshu Guan2 and Karen Costenbader4, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital, Boston, MA, 3Harvard T.H. Chan School of Public Health, Boston, MA, 4Brigham and Women's Hospital and Harvard Medical School, Boston, MA

    Background/Purpose: Antinuclear antibodies (ANA) to intranuclear particles are found in the blood of people with and without autoimmune diseases. To our knowledge, only 1 past…
  • Abstract Number: 0336 • ACR Convergence 2022

    Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record

    Yi-Ming Chen1, Tzu-Hung Hsiao1, Seng-Cho Chou2 and Chi-Wei Chung2, 1Taichung Veterans General Hospital, Taichung, Taiwan, 2Department of Information Management, National Taiwan University, Taipei, Taiwan

    Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…
  • Abstract Number: 1146 • ACR Convergence 2022

    Genetic Interactions Between T-Cell Receptor Polymorphisms and HLA Amino Acids Contribute to the Risk of Rheumatoid Arthritis

    Chuan Fu Yap1, Paul Martin2, Darren Plant1, John Bowes1, Kazuyoshi Ishigaki3, Saori Sakaue4, Alex Macgregor5, Suzanne Verstappen1, Anne Barton1, Soumya Raychaudhuri6 and Sebastien Viatte1, 1The University of Manchester, Manchester, United Kingdom, 2The University of Manchester, Oberhaching, Germany, 3Riken, Bunkyo-ku, Tokyo, Japan, 4Broad Institute of Harvard and MIT, Cambridge, MA, 5The University of East Anglia, Norwich, United Kingdom, 6Brigham and Women's Hospital, Boston, MA

    Background/Purpose: Rheumatoid arthritis (RA) genetic susceptibility has been well studied with five amino acid positions within the HLA explaining most of the association. Although genome…
  • Abstract Number: 1148 • ACR Convergence 2022

    GWAS Identified New Genes in Synovial Fibroblasts Linked to Early Remission in RA

    Marc Maurits1, lydia Abasolo Alcazar2, Erik van den Akker3, Johan Askling4, Anne Barton5, Stephan Blüml6, Stephan Böhringer7, Andrew Cope8, Paul Emery9, Stephen Eyre5, Priya Gaddi5, Isidoro Gonzalez10, Carl Goodyear11, Annette van der Helm-van Mil12, Xinli Hu13, Tom Huizinga3, John D Isaacs14, Scott Jelinsky13, Martina Johannesson4, Samantha Jurado Zapata3, Changlin Ke3, Lars Klareskog4, Dennis Lendrem15, Myles Lewis16, Mingdong Liu3, Paul Martin17, Iain B McInnes18, Raphael Micheroli19, Ann Morgan20, Fraser Morton11, Najib Naamane15, Gisela Orozco5, Caroline Ospelt21, Leonid Padyukov4, Caron Paterson11, Darren Plant5, Duncan Porter22, Arthur Pratt23, Soumya Raychaudhuri24, Louise Reynard15, Luis Rodriguez-Rodriguez25, Daniela Sieghart26, Paul Studenic6, John Taylor27, René Toes3, Marloes Verstappen3, Suzanne Verstappen5, Helga Westerlind4, Aaron Winkler13 and Rachel Knevel3, 1LUMC, Leiden, Netherlands, 2IDISSC Hospital Clinico San Carlos, Madrid, Spain, 3Leiden University Medical Center, Leiden, Netherlands, 4Karolinska Institutet, Stockholm, Sweden, 5The University of Manchester, Manchester, United Kingdom, 6Medical University of Vienna, Vienna, Austria, 7Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Leiden, Netherlands, 8King's College London, Surrey, United Kingdom, 9Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom, 10Hospital Universitario de La Princesa, Madrid, Spain, 11University of Glasgow, Glasgow, Scotland, United Kingdom, 12Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands, 13Pfizer Inc., Cambridge, MA, 14Institute for Translational and Clinical Research, Newcastle University and Musculoskeletal Unit, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom, 15Newcastle University, Newcastle, United Kingdom, 16Queen Mary University of London, London, United Kingdom, 17The University of Manchester, Oberhaching, Germany, 18Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom, 19University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland, 20University of Leeds, Leeds, United Kingdom, 21Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, 22Gartnavel General Hospital, Bearsden, United Kingdom, 23Newcastle University, Newcastle upon Tyne, United Kingdom, 24Brigham and Women's Hospital, Boston, MA, 25Instituto de Investigación Sanitaria San Carlos, Rheumatology, Madrid, Spain, 26Division of Rheumatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria, 27University of Leeds, Euclid, OH

    Background/Purpose: In order to understand the genetic factors that lead to early remission in RA, we performed a GWAS to uncover important biological pathways.Methods: We…
  • Abstract Number: 1379 • ACR Convergence 2022

    Association of HLA Alleles with Specific Auto-antibodies in an Ancestrally Diverse Population of Childhood Systemic Lupus Erythematosus (SLE)

    Nicholas Gold1, Fangming Liao1, JingJing Cao1, Daniela Dominguez1, Andrea Knight2, Deborah Levy3 and Linda Hiraki4, 1The Hospital for Sick Children, Toronto, ON, Canada, 2The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 3Division of Rheumatology, The Hospital for Sick Children; Child Health Evaluative Services, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 4The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada

    Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease capable of affecting multiple organ systems. Genetic variants in the Human Leukocyte Antigen (HLA) are associated…
  • Abstract Number: 1678 • ACR Convergence 2022

    A Genome-Wide Association Analysis of 2,622,830 Individuals Reveals New Pathogenic Pathways in Gout

    Tony Merriman1, Hirotaka Matsuo2, Riku Takei3, Megan Leask3, Ruth Topless1, Yuya Shirai4, Zhiqiang Li5, Murray Cadzow1, Richard Reynolds3, kenneth saag3, Tayaza Fadason6, Justin O'Sullivan6, Nicola Dalbeth6, Lisa Stamp7, Abhishek Abhishek8, Michael Doherty8, Edward Roddy9, Lennart Jacobsson10, Meliha Kapetanovic11, Mariano Andrès12, Fernando Perez-Ruiz13, Rosa Torres Jimenez14, Timothy Radstake15, Timothy Jansen16, Matthijs Janssen17, Leo Joosten18, Tania Octavia Crisan19, Tom Huizinga20, Frederic LIOTE21, Pascal Richette22, Thomas Bardin23, Tristan Pascart24, Geraldine McCarthy25, Blanka Stiburkova26, Anne Tausche27, Till Uhlig28, Veronique Vitart29, Philip Riches29, Stuart Ralston29, Thomas MacDonald30, Akiyoshi Nakayama2, Masahiro Nakatochi31, Kimiyoshi Ichida32, Tappei Takada33, Chaeyoung Lee34, Matthew Brown35, Philip Robinson36, Catherine Hill37, Hyon Choi38, Nicholas Sumpter3, Marilyn Merriman3, Amanda Phipps-Green1, Wenhua Wei1, Sally McCormick1, Olle Melander39, René Toes20, Hang-Korng Ea21, Fina Kurreeman20, Laura Helbert25, Thibaud Boutin29, Nariyoshi Shinomiya2, Linda Bradbury40, Russell Buchanan41, Susan Lester37, Malcolm Smith42, Maureen Rischmueller43, On behalf of Japan Gout Genomics Consortium (J-Gout)44, On behalf of Japan Multi-Instl Collab Cohort Study (J-MICC)45, Eli Stahl46, Jeff Miner47, Daniel Solomon48, Jing Cui48, Kathleen Giacomini49, Deanna Brackman49, Eric Jorgenson50, On behalf of 23andMe Research Team51, Suyash Shringapure51, Alexander So52, Yukinori Okada4, Changgui Li5, Yongyong Shi53 and Tanya Major1, 1University of Otago, Dunedin, New Zealand, 2National Defense Medical College, Saitama, Japan, 3University of Alabama at Birmingham, Birmingham, AL, 4Osaka University, Suita, Osaka, Japan, 5The Affiliated Hospital of Qingdao University, Qingdao, China, 6University of Auckland, Auckland, New Zealand, 7University of Otago, Christchurch, New Zealand, 8University of Nottingham, Nottingham, United Kingdom, 9Keele University, Keele, United Kingdom, 10Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden, 11Lund University, Department for clinical sciences Lund, section of rheumatology and Lund University Hospital Lund and Malmö, Lund, Sweden, 12Dr Balmis Alicante General University Hospital-ISABIAL, Alicante, Spain, 13University of the Basque Country, Barakaldo, Spain, 14La Paz University Hospital, Madrid, Spain, 15University Medical College Uthrecht, Utrecht, Netherlands, 16VieCuri Medical Centre, Venlo, Netherlands, 17Rijnstate Hospital, Bennekom, Netherlands, 18Radboudumc, Nijmegen, Netherlands, 19University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania, 20Leiden University Medical Center, Leiden, Netherlands, 21University of Paris, Paris, France, 22Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, 23Hôpital Lariboisiere, Paris, France, 24Lille Catholic University, Lille, France, 25Mater Misericordiae University Hospital, Dublin, Ireland, 26Institute of Rheumatology, Prague, Czech Republic, 27University Clinic 'Carl Gustav Carus' at the Technical University, Dresden, Germany, 28Diakonhjemmet Hospital, Oslo, Norway, 29University of Edinburgh, Edinburgh, Scotland, United Kingdom, 30University of Dundee, Dundee, United Kingdom, 31Nagoya University Hospital, Nagoya, Japan, 32Tokyo University of Pharmacy and Life Sciences, Hachioji, Japan, 33University of Tokyo Hospital, Tokyo, Japan, 34Soongsil University, Seoul, Republic of Korea, 35Genomics England, London, United Kingdom, 36University of Queensland, Brisbane, Australia, 37The Queen Elizabeth Hospital, Adelaide, Australia, 38Massachusetts General Hospital, Lexington, MA, 39Lund University, Malmö, Sweden, 40Gold Coast University Hospital, Brisbane, Australia, 41Austin Health, Heidelberg, Australia, 42Flinders Medical Centre, Adelaide, Australia, 43RheumatologySA, Adelaide, Australia, 44Japan Gout Genomics Consortium (J-Gout), Saitama, Japan, 45Japan Multi-Institutional Collaborative Cohort Study (J-MICC), Nagoya, Japan, 46Regeneron, New York, NY, 47ViscientBio, San Diego, CA, 48Brigham and Women's Hospital, Boston, MA, 49University of California San Francisco, San Francisco, CA, 50Kaiser Permanente, San Francisco, CA, 5123andMe, Inc., Sunnyvale, CA, 52University of Lausanne, Lausanne, Switzerland, 53Shanghai Jiao Tong University, Shanghai, China

    Background/Purpose: Genome-wide association studies (GWAS) in gout have been relatively small (≤13,179 people with gout) and have provided little insight into the progression from hyperuricemia…
  • Abstract Number: 0525 • ACR Convergence 2021

    STEAP3, FZD2 and EGFLAM Are Novel Genetic Risk Loci for Granulomatosis with Polyangitis: A Genome Wide Association Study from UK Biobank

    Mehmet Hocaoglu1, Jamal Mikdashi2, Yi-Ju Chen2, James Perry2 and Charles Hong2, 1University of Maryland Medical Center, Midtown Campus, Baltimore, MD, 2University of Maryland School of Medicine, Baltimore, MD

    Background/Purpose: Granulomatosis with Polyangitis (GPA) is a systemic ANCA associated small vessel vasculitis. Prior genetic studies demonstrated a strong association of HLA Class II region…
  • 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…
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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.

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].

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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].

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