ACR Meeting Abstracts

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Abstracts tagged "Genome Wide Association Studies"

  • Abstract Number: 2410 • ACR Convergence 2025

    Immune Cell/Pathway-Specific Polygenic Risk Scores Reveal Immune Pathway Associations in Childhood-Onset Lupus Nephritis

    Liyoung Kim1, Daniela Fernandez-Salinas2, Gonzalo Villanueva Martin3, Vitor Aguiar3, Laura Lewandowski4, Tiphanie Vogel5, Carola Vinuesa6, Linda Hiraki7, Tracey Wright8, Virginia Pascual9, Joyce Chang2, Maria Gutierrez-Arcelus2 and Peter Nigrovic1, 1Boston Children's Hospital, Brookline, MA, 2Boston Children's Hospital, Boston, MA, 3Boston Children's Hospital, Boston, 4NIAMS, NIH, Bethesda, MD, 5Baylor College of Medicine, Houston, TX, 6Francis Crick Institute, London, United Kingdom, 7The Hospital for Sick Children, Toronto, ON, Canada, 8UT Southwestern, Children's Medical Center, and Scottish Rite for Children, Dallas, TX, 9Weill Cornell Medical College, New York, NY

    Background/Purpose: Polygenic risk scores (PRS) quantify an individual’s genetic susceptibility to diseases by integrating genotype data across multiple loci. However, conventional PRS are limited in…
  • Abstract Number: 1696 • ACR Convergence 2025

    A multi-omics resource of B cell activation reveals genetic mechanisms for autoimmune diseases

    Vitor Aguiar1, Marcella Franco1, Nada Abdel Aziz1, Daniela Fernandez-Salinas2, Marcos Chinas1, Mariasilvia Colantuoni2, Qian Xiao1, Nicolaj Hackert1, Yifei Liao3, Rodrigo Cervantes-Diaz1, Marc Todd1, Brian Wauford1, Alex Wactor1, Vaishali Prahalad1, Raquel Laza-Briviesca1, Roxane Darbousset1, Qiang Wang1, Scott Jenks4, Kevin Cashman4, Esther Zumaquero4, Zhu Zhu1, Junning Case3, Paloma Cejas5, Miguel Munoz-Gomez5, Hannah Ainsworth6, Miranda Marion7, Mehdi Benamar1, Pui Lee8, Lauren Henderson9, Margaret Chang2, Kevin Wei10, Henry Long5, Carl Langefeld11, Benjamin Gewurz3, Ignacio Sanz4, Jeffrey Sparks12, Esra Meidan13, Peter Nigrovic2 and Maria Gutierrez-Arcelus2, 1Boston Children's Hospital, Boston, 2Boston Children's Hospital, Boston, MA, 3Brigham and Women's Hospital, Boston, 4Emory University, Atlanta, 5Dana Farber Cancer Institute, Boston, 6Wake Forest University, Winston-Salem, NC, 7Wake Forest, Winston-Salem, 8Boston Children's Hospital, Newton, MA, 9Boston Children's Hospital, Watertown, MA, 10Brigham and Women's Hospital at Harvard Medical School, Boston, MA, 11Wake Forest University School of Medicine, Winston Salem, NC, 12Brigham and Women's Hospital, Boston, MA, 13Boston Children's Hospital, Somerville, MA

    Background/Purpose: Most genetic variants that confer risk of complex autoimmune diseases affect gene regulation in specific cell types. Their target genes and focus cell types…
  • Abstract Number: 1303 • ACR Convergence 2025

    Impact of Fruits and Vegetables Intake on Immune-mediated Inflammatory Diseases:a Two-sample Mendelian Randomization Study

    Xuemei Tang, Yuting Zhou, Yuxiao Chen, Xinglin Wu and Qiang Luo, Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China, Chongqing, China (People's Republic)

    Background/Purpose: A balanced diet can prevent diseases and promote physical and mental health. Accumulating evidence shows that fruits and vegetables (F&Vs) intake is associated with…
  • Abstract Number: 0112 • ACR Convergence 2025

    Proteome-wide Mendelian Randomization Identifies Therapeutic Targets in Psoriatic Arthritis

    Quan Li1 and Proton Rahman2, 1University of Toronto, Toronto, Canada, 2Division of Rheumatology, Craig L. Dobbin Genetics Research Centre, Discipline of Medicine, Memorial University of Newfoundland, St. John's, Canada

    Background/Purpose: While numerous proteins have been linked to psoriatic arthritis (PsA), the causal nature of these associations remains unconfirmed. This study aims to employ a…
  • Abstract Number: 0034 • ACR Convergence 2025

    Meta-Analysis of GWAS data from 10,003 Sjögren’s Disease Cases Identifies Thirteen Sjögren’s Risk Loci.

    Marcin Radziszewski1, Bhuwan Khatri1, Philip Stuart2, Astrid Rasmussen1, Kandice Tessneer1, Cherilyn Pritchett-Frazee1, Matthew Pattrick2, Elena Pontarini3, michele Bombardieri4, Maureen Rischmueller5, Marika Kvarnström6, Torsten Witte7, Hendrika Bootsma8, Gwenny Verstappen9, Frans Kroese9, Arjan Vissink10, Sarah Pringle9, Athanasios Tzioufas11, Clio Mavragani12, Alan Baer13, Marta Alarcon-Riquelme14, Javier Martin15, Xavier Mariette16, Gaetane Nocturne17, Jacques-Olivier Pers18, Jacques-eric GOTTENBERG19, Wan-Fai Ng20, Caroline Shiboski21, Kimberly Taylor22, Lindsey Criswell23, Blake M. Warner24, A. Darise Farris1, Judith James1, R Hal Scofield1, Joel Guthridge1, Daniel Wallace25, Swamy Venuturupalli26, Mike Brennan27, Juliana Imgenberg-Kreuz28, Lars Rönnblom28, Eva Baecklund29, Maija-Leena Eloranta28, Svein Joar Augländ Johnsen30, Roald Omdal31, Lara Aqrawi32, Øyvind Palm33, Johan Brun34, Daniel Hammenfors34, Malin Jonsson34 and Silke Appel34, Sara Bucher35, Helena Forsblad36, Thomas Mandl37, Per Eriksson38, Marie Wahren-Herlenius6, Erik Abner39, Tõnu Esko39, Benjamin A. Fisher40, Rachel Gordon41, Gabriela Hernandez-Molina42, Adrian Lee43, Johann Gudjonsson44, Lam Tsoi44, Gunnel Nordmark29 and Christopher Lessard1,1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2University of Michigan Medical School, Ann Arbor, MI, 3Queen Mary University of London, London, United Kingdom, 4Experimental Medicine and Rheumatology, William Harvey Research Institute, Queen Mary University of London, UK, London, United Kingdom, 5RheumatologySA, Adelaide, Australia, 6Karolinska Institutet, Stockholm, Sweden, 7Dept of Rheumatology and Immunology, Hannover, Niedersachsen, Germany, 8UMCG, Groningen, Netherlands, 9University Medical Center Groningen, Groningen, Netherlands, 10University of Groningen, Leek, Netherlands, 11LAIKO HOSPITAL, Athens, Greece, 12National and Kapodistrian University of Athens, Athens, Greece, 13Johns Hopkins University School of Medicine, Baltimore, MD, 14Fundación Progreso y Salud, Andalusian Government, Granada, Spain, 15Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain, 16Université Paris-Saclay, Le Kremlin Bicetre, France, 17University Paris Saclay, Le Kremlin Bicetre, Ile-de-France, France, 18CHU de Brest, Brest, France, 19Hautepierre Hospital, STRASBOURG, Alsace, France, 20Newcastle University, Gateshead, United Kingdom, 21University of California San Francisco, San Francisco, CA, 22UC San Francisco, San Francisco, CA, 23NIH/NHGRI, Bethesda, MD, 24National Institutes of Health, Bethesda, MD, 25Cedars Sinai Medical Center, Studio City, CA, 26Attune Health, Beverly Hills, CA, 27Atrium Health, Charlotte, NC, 28Department of Medical Sciences, Uppsala University, Uppsala, Sweden, 29Uppsala University, Uppsala, Sweden, 30Stavanger University Hospital, Stavanger, Norway, 31Stavanger University Hospital, Stavanger, Nepal, 32Kristiania University College, Oslo, Norway, 33Oslo University Hospital, Oslo, Norway, 34University of Bergen, Bergen, Norway, 35Örebro University, Örebro, Sweden, 36University of Gothenburg, Gothenburg, Sweden, 37Lund University, Malmö, Sweden, 38Linköping University, Linköping University, 39University of Tartu, Tartu, Estonia, 40 King’s College London, London, UK; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK, 41University of Pittsburgh School of Medicine, Pittsburgh, PA, 42Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico, 43University of Sydney, Sydney, Australia, 44University of Michigan, Ann Arbor, MI.

    Background/Purpose: Sjögren’s disease (SjD) is a systemic autoimmune condition with a complex genetic architecture. To date, 22 genome-wide significant (GWS) SjD risk loci have been…
  • Abstract Number: 0022 • ACR Convergence 2025

    Genome-wide association study identifies novel genetic risk factors for rheumatoid arthritis-associated interstitial lung disease

    Austin Wheeler1, Thomas Riley2, Riku Takei3, Joshua Baker2, Yangyuna Yang1, Punyasha Roul4, Katherine Wysham5, Grant Cannon6, Gary Kunkel7, Gail Kerr8, Dana Ascherman9, Paul Monach10, Andreas Reimold11, Jill Poole1, Ted Mikuls1, Tony Merriman12 and Bryant England1, 1University of Nebraska Medical Center, Omaha, NE, 2University of Pennsylvania, Philadelphia, PA, 3University of Alabama at Birmingham, Birmingham, AL, 4UNMC, Omaha, NE, 5VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, 6University of Utah and Salt Lake City VA, Salt Lake City, UT, 7University of Utah and George E Wahlen VAMC, Salt Lake City, UT, 8Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, 9University of Pittsburgh, Pittsburgh, PA, 10VA Boston Healthcare System, Boston, MA, 11Dallas VA Medical Center, Dallas, TX, 12University of Alabama at Birmingham, Homewood, AL

    Background/Purpose: Interstitial lung disease (ILD) is clinically present in ~10% of individuals with RA. There is recognized overlap between RA-ILD and idiopathic pulmonary fibrosis (IPF)…
  • Abstract Number: 0913 • ACR Convergence 2024

    The Association Between PTPN2 and Leukopenia in New Users of Azathioprine

    Puran Nepal1, Laura L. Daniel2, Jacy Zanussi2, Alyson L. Dickson3, Wei-Qi Wei3, Adriana M. Hung4, Nancy J. Cox3, Vivian K. Kawai3, Jonathan D. Mosley3, C. Michael Stein3, QiPing Feng3, Ge Liu3, Ran Tao3 and Cecilia P. Chung2, 1Vanderbilt University Medical Center, Vanderbilt, TN, 2University of Miami, Miami, FL, 3Vanderbilt University Medical Center, Nashville, TN, 4Veterans Administration Tennessee Valley Healthcare System, Nashville, TN

    Background/Purpose: Leukopenia is a common dose-dependent side effect of azathioprine and often results in discontinuation of the drug. Variants in TPMT and NUDT15 have been…
  • Abstract Number: 0914 • ACR Convergence 2024

    RAB19 and Azathioprine-Associated Pancreatic Injury in Patients Taking Azathioprine

    Shailja C. Shah1, Tyler S. Reese2, Laura L. Daniel3, Puran Nepal4, Jacy Zanussi3, Alyson L. Dickson2, Ran Tao2, Adriana M. Hung5, Wei-Qi Wei2, C. Michael Stein2, QiPing Feng2 and Cecilia P. Chung3, 1University of California, San Diego, San Diego, CA, 2Vanderbilt University Medical Center, Nashville, TN, 3University of Miami, Miami, FL, 4Vanderbilt University Medical Center, Vanderbilt, TN, 5Veterans Administration Tennessee Valley Healthcare System, Nashville, TN

    Background/Purpose: Pancreatitis is a rare, but potentially life-threatening adverse event associated with the use of azathioprine. Prior studies have found an association between the HLA…
  • Abstract Number: 0915 • ACR Convergence 2024

    APOH Locus Associated with Higher Anti-Beta-2-Glycoprotein 1 Antibody Levels Paradoxically Protects Against Venous Thromboembolism

    Yiming Luo, Lili Liu, Atlas Khan, R. Graham Barr, Elana Bernstein and Krzysztof Kiryluk, Columbia University Irving Medical Center, New York, NY

    Background/Purpose: Anti-Beta-2-glycoprotein 1 antibody (anti-B2GP1) is associated with antiphospholipid syndrome (APS), a rare autoimmune disease that causes venous thromboembolism (VTE). APOH, which expresses the B2GP1…
  • Abstract Number: 1803 • ACR Convergence 2024

    Genetics of eGFR Variability as a Proxy for Lupus Nephritis in Patients with Systemic Lupus Erythematosus

    Magdalena Riedl Khursigara1, Nicholas Gold2, Thai-Son Tang3, JingJing Cao4, Daniela Dominguez4, Marisa Klein-Gitelman5, Dafna Gladman6, Daniel Goldman7, Elizabeth Harvey4, Mariko Ishimori8, Caroline Jefferies9, Diane Kamen10, Sylvia Kamphuis11, Andrea Knight12, Chia-Chi Lee13, Deborah Levy2, Damien Noone4, Karen Onel14, Christine Peschken15, Michelle Petri7, Janet Pope16, Eleanor Pullenayegum4, Earl Silverman17, Zahi Touma18, Murray Urowitz19, Daniel Wallace20, Joan Wither21 and Linda Hiraki2, and Systemic Lupus Erythematosus Collaborative Clinics (SLICC), 1University of Toronto, Cambridge, MA, 2The Hospital for Sick Children, Toronto, ON, Canada, 3University of Toronto, Mississauga, ON, Canada, 4The Hospital for Sick Children, Toronto, Canada, 5Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 6University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 7Johns Hopkins University School of Medicine, Timonium, MD, 8Cedars-Sinai Health System, Los Angeles, CA, 9Cedars-Sinai Medical Center, Beverly Hills, CA, 10Medical University of South Carolina, Charleston, SC, 11Erasmus University Medical Center, Rotterdam, Netherlands, 12Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 13Cedars-Sinai Medical Center, Los Angeles, CA, 14HSS, New York, NY, 15University of Manitoba, Winnipeg, MB, Canada, 16University of Western Ontario, London, ON, Canada, 17Silverman, Toronto, ON, Canada, 18University of Toronto, Toronto, ON, Canada, 19Self employed, Toronto, ON, Canada, 20Cedars Sinai Medical Center, Studio City, CA, 21University Health Network, Toronto, ON, Canada

    Background/Purpose: Lupus nephritis (LN) is one of the most common and severe manifestations of systemic lupus erythematosus (SLE). We performed genome wide association studies (GWAS)…
  • Abstract Number: 2289 • ACR Convergence 2024

    Associations Between Protein Quantitative Trait Loci and Risk of Primary Sjögren’s Syndrome: A Mendelian Randomization Study

    Benjamin Zuckerman1, Alasdair Warwick2, art Schuermans3, Mark Gibson4, Ioasaf Karafotias5, Zijing Yang1, Carine moezinia6, Mark Russell7, Chris Wincup8, James Galloway9 and Sizheng Zhao10, 1King's College London, London, England, United Kingdom, 2University college London, London, United Kingdom, 3KU Leuven, Leuven, Belgium, 4King's College London, Newmarket, United Kingdom, 5King's College London, London, United Kingdom, 6univerity college hospital, London, United Kingdom, 7King's College London, London, United Kingdom, 8King's College Hospital, London, United Kingdom, 9Centre for Rheumatic Diseases, King's College London, London, United Kingdom, 10Centre for Musculoskeletal Research, The University of Manchester, Liverpool, United Kingdom

    Background/Purpose: The pathophysiology of primary Sjögren’s disease involves the interaction of genetic, epigenetic, and environmental factors. With limited treatment options for severe disease, a detailed understanding…
  • Abstract Number: 2533 • ACR Convergence 2024

    Genome-wide Association of Rheumatoid Arthritis in the African Ancestry Identifies HLA Amino Acid Polymorphisms of Risk

    Harrison Zhang1, Saori Sakaue2, Daniel Posner3, Jing Cui4, Dorris Yang5, Ashley Budu-Aggrey6, Yuk-Lam Ho3, Lauren Costa3, Rachael Matty3, Selena Huang1, Paul Monach7, Kazuyoshi Ishaigaki8, Monika Maripuri7, Connor Melley7, Vidisha Tanukonda7, Rahul Sangar3, Gregory McDermott9, Mary Jeffway1, Vincent Laufer10, Yukinori Okada11, Ian Scott12, S. Louis Bridges13, Kelly Cho3, Chuan Hong14, Jennifer E. Huffman15, Tianxi Cai16, Soumya Raychaudhuri1 and Katherine Liao1, and the VA Million Veteran Program, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital, Cambridge, MA, 3U.S. Department of Veterans Affairs, Boston, MA, 4Brigham Women's Hospital, Boston, MA, 5Harvard Medical School, Cambridge, MA, 6Bristol Medical School, Manchester, United Kingdom, 7VA Boston Healthcare System, Boston, MA, 8Keio University School of Medicine, Tokyo, Japan, 9Brigham and Women's Hospital, Brookline, MA, 10Michigan Medicine, Birmingham, AL, 11Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, 12School of Medicine, Keele University, Keele, United Kingdom, 13Division of Rheumatology, Weill Cornell Medical College, New York, NY, 14Duke University, Durham, NC, 15VA Boston Healthcare System, Palo Alto, 16Harvard T.H. Chan School of Public Health, Boston, MA

    Background/Purpose: The association between RA and the MHC is largely explained by five amino acid (AA) positions: DRB1 positions 11, 13, 71, and 74, HLA-B…
  • Abstract Number: 2602 • ACR Convergence 2024

    Genetics of Sex Dimorphism in Clinical Manifestations of Systemic Lupus Erythematosus

    Caseng Zhang1, Nicholas Gold2, Raffaella Carlomagno3, JingJing Cao4, Daniela Dominguez4, Dafna Gladman5, Mariko Ishimori6, Caroline Jefferies7, Diane Kamen8, Sylvia Kamphuis9, Marisa Klein-Gitelman10, Andrea Knight11, Chia-Chi Lee12, Deborah Levy2, Lawrence Ng2, Karen Onel13, Andrew Paterson4, Christine Peschken14, Janet Pope15, Earl Silverman16, Zahi Touma17, Murray Urowitz18, Daniel Wallace19, Joan Wither20 and Linda Hiraki2, 1University of Ottawa, Ottawa, ON, Canada, 2The Hospital for Sick Children, Toronto, ON, Canada, 3Lausanne University Hospital, Toronto, ON, Canada, 4The Hospital for Sick Children, Toronto, Canada, 5University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 6Cedars-Sinai Health System, Los Angeles, CA, 7Cedars-Sinai Medical Center, Beverly Hills, CA, 8Medical University of South Carolina, Charleston, SC, 9Erasmus University Medical Center, Rotterdam, Netherlands, 10Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 11Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 12Cedars-Sinai Medical Center, Los Angeles, CA, 13HSS, New York, NY, 14University of Manitoba, Winnipeg, MB, Canada, 15University of Western Ontario, London, ON, Canada, 16Silverman, Toronto, ON, Canada, 17University of Toronto, Toronto, ON, Canada, 18Self employed, Toronto, ON, Canada, 19Cedars Sinai Medical Center, Studio City, CA, 20University Health Network, Toronto, ON, Canada

    Background/Purpose: Systemic lupus erythematosus (SLE) is a complex chronic autoimmune disease with multi-organ involvement and a strong female predominance. Prior studies demonstrated sex dimorphism in…
  • Abstract Number: 0896 • ACR Convergence 2024

    Identification of Immune Pathways Regulated by a Non-Coding Variant at DNASE1L3/PXK/PDHB

    Michelle Morency1, Taehyeung Kim1 and Peter Nigrovic2, 1Boston Children's Hospital, Boston, MA, 2Boston Children's Hospital, Brookline, MA

    Background/Purpose: Rheumatoid arthritis (RA) is a prevalent autoimmune disease in which aberrant immune attacks on joints and other tissues leads to permanent and disabling injury.…
  • Abstract Number: 0900 • ACR Convergence 2024

    Association Between Serum Urate, Gout, and Prostatic Cancer in European Male Populations: A Mendelian Randomization Study

    Sumanth Chandrupatla1, Nicholas Sumpter1, Tony Merriman2 and Jasvinder Singh3, 1University of Alabama at Birmingham, Birmingham, AL, 2University of Alabama at Birmingham, Homewood, AL, 3Baylor College of Medicine, Birmingham, AL

    Background/Purpose: Gout and serum urate (SU) are associated with prostate cancer risk. Previous Mendelian randomization (MR) studies have shown mixed results on the causal relationship…
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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 CT on October 25. 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.).

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