Abstracts tagged "Genome Wide Association Studies"

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: 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: 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…
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)…

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