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: 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…
Abstract Number: 0902 • ACR Convergence 2024
Novel Role of TYK2mechanism in SLE Pathogenesis via T Cell and B Cell Pathways
Joshua Hoffman¹, Nicole Narayan² and Mera Tilley¹, ¹Alumis Inc, South San Francisco, CA, ²Alumis, South San Francisco, CA
Background/Purpose: SLE is a complex disease in need of novel therapies. Previously reported genome-wide association studies (GWAS) have identified a strong association between SLE and…
Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Katherine Owen¹, Isaac Peabody², Mikhail Olferiev³, Tyson Dawson², Prathyusha Bachali⁴, Peter Kasson⁵, Amrie Grammer⁶, Mary Crow³ and Peter Lipsky², ¹RILITE, Charlottesville, VA, ²Ampel Biosolutions, Charlottesville, VA, ³Hospital for Special Surgery, New York, NY, ⁴AMPEL BioSolutions, Redmond, WA, ⁵University of Virginia, Charlottesville, VA, ⁶AMPEL LLC, Charlottesville, VA
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…
Abstract Number: 0911 • ACR Convergence 2024
Activating B Cells Facilitates the Discovery of Latent Disease-associated Variants
David Murphy, Yao Fu, Jennifer Kelly, Richard Pelikan, Graham Wiley and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Although millions of disease-associated variants have been discovered using GWAS, most of these occur in non-coding regions and their mechanistic link to disease is…
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…

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.).

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].