Abstracts tagged "genomics"

Abstract Number: 1126 • ACR Convergence 2022
Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis
Urvashi Kaundal¹, Emilee Stenson¹, Mousumi Sahu¹, Krishan Kumar Thakur¹, Janet Wang¹, Ami Shah², Maureen Mayes³, Ayo Doumatey⁴, Amy Bentley⁴, Daniel Shriner⁴, Robyn Domsic⁵, Thomas Medsger⁶, Paula Ramos⁷, Richard Silver⁷, Virginia Steen⁸, John Varga⁹, Vivien Hsu¹⁰, Lesley Ann Saketkoo¹¹, Elena Schiopu¹², Dinesh Khanna¹³, Jessica Gordon¹⁴, Lindsey Criswell¹⁵, Heather Gladue¹⁶, Chris Derk¹⁷, Elana Bernstein¹⁸, S. Louis Bridges, Jr.¹⁴, Victoria Shanmugam¹⁹, Lorinda Chung²⁰, Suzanne Kafaja²¹, Reem Jan²², Marcin Trojanowski²³, Avram Goldberg²⁴, Benjamin Korman²⁵, Jim Mullikin⁴, Stefania Dell'Orso¹, Adebowale Adeyemo⁴, Charles Rotimi⁴, Elaine Remmers⁴, Daniel Kastner⁴, Fredrick Wigley²⁶, Francesco Boin²⁷ and Pravitt Gourh²⁸, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Johns Hopkins Rheumatology, Baltimore, MD, ³Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁷Medical University of South Carolina, Charleston, SC, ⁸Georgetown University School of Medicine, Washington, DC, ⁹University of Michigan, Ann Arbor, MI, ¹⁰Rutgers-RWJ Medical School, South Plainfield, NJ, ¹¹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹²Michigan Medicine, Ann Arbor, MI, ¹³Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁴Hospital for Special Surgery, New York, NY, ¹⁵National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁶Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁷University of Pennsylvania, Philadelphia, PA, ¹⁸Columbia University, New York, NY, ¹⁹George Washington University, Great Falls, VA, ²⁰Stanford University, Stanford, CA, ²¹UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²²University of Chicago, Chicago, IL, ²³Boston University School of Medicine, Boston, MA, ²⁴NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁵University of Rochester, Rochester, NY, ²⁶Johns Hopkins University, Baltimore, MD, ²⁷Cedars-Sinai Medical Center, Los Angeles, CA, ²⁸National Institutes of Health, Bethesda, MD
Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…
Abstract Number: 2164 • ACR Convergence 2022
Profibrotic Alveolar Macrophages as a Potential Biomarker in Systemic Sclerosis-associated Interstitial Lung Disease
Nikolay Markov¹, Karolina Senkow¹, Anthony Esposito², Jonathan Puchalski³, Mridu Gulati³, Erica Herzog³, Danielle Antin-Ozerkis⁴, Mary Carns⁵, Alyssa Williams⁶, Nic Page⁶, Alexander Misharin¹ and Monique Hinchcliff⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²Brigham and Women's Hospital, Department of Medicine, Boston, MA, ³Yale School of Medicine, New Haven, CT, ⁴Section of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Yale University, New Haven, CT, ⁷Yale School of Medicine, Westport, CT
Background/Purpose: Interstitial lung disease (ILD) is a leading cause of death in patients with systemic sclerosis (SSc). Previously, profibrotic monocyte-derived alveolar macrophages (MoAM) expressing (SPP1,…
Abstract Number: 0014 • ACR Convergence 2022
The Expanded CD21 Low B Cell Subpopulation in Ankylosing Spondylitis Consists Mainly of Antigen-Inexperienced Cells
Rick Wilbrink¹, Linda van der Weele², Anneke Spoorenberg¹, Niek De Vries², Frans Kroese¹ and Gwenny Verstappen¹, ¹University Medical Center Groningen, Groningen, Netherlands, ²University Medical Center Amsterdam, Amsterdam, Netherlands
Background/Purpose: The role of B cells in the pathogenesis of ankylosing spondylitis (AS) remains relatively understudied. Nevertheless, available evidence shows presence of B cells at…
Abstract Number: 1128 • ACR Convergence 2022
The Causal Association Between Osteoarthritis and Common Comorbidities: A Mendelian Randomisation Study
William Thompson¹, Subhashisa Swain², Sizheng Zhao³, Anne Kamps⁴, Carol Coupland⁵, Chang-Fu Kuo⁶, Michael Doherty⁵ and Weiya Zhang⁵, ¹University of Nottingham, Exeter, United Kingdom, ²University of Oxford, Oxford, United Kingdom, ³The University of Manchester, Manchester, United Kingdom, ⁴Erasmus University Medical Centre, Rotterdam, Netherlands, ⁵University of Nottingham, Nottingham, United Kingdom, ⁶Chang Gung Memorial Hospital, Taoyuan, Taiwan
Background/Purpose: Osteoarthritis (OA) is the most common cause of joint pain and a major cause of disability. OA commonly associates with other conditions, such as…
Abstract Number: 2221 • ACR Convergence 2022
The Molecular Endotypes of Type 1 and Type 2 SLE
Robert Robl¹, Amanda Eudy², Prathyusha Bachali³, Jennifer L Rogers⁴, Megan Clowse⁵, David Pisetsky⁶ and Peter lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²Duke University, Raleigh, NC, ³AMPEL BioSolutions, Redmond, WA, ⁴Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, ⁵Duke University, Durham, NC, ⁶Duke University Medical Center, Durham, NC
Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…
Abstract Number: 0017 • ACR Convergence 2022
Intra-articular Injection of Bacterial DNA Amplified from Human OA Patient Cartilage Worsens OA Outcomes in Mice
Leoni Schlupp¹, Emmaline Prinz¹, Vladislav Izda², Emily Nguyen¹, Christopher Dunn³ and Matlock Jeffries¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, New York, NY, ³University of Oklahoma Health Sciences Center, Edmond, OK
Background/Purpose: We have previous demonstrated a bacterial DNA signature within cartilage of humans and mice and shown shifts in this signature with OA development. However,…
Abstract Number: 1131 • ACR Convergence 2022
Integrating Genome and Transcriptome-Wide Associations with Real-World Data to Assess Risk for Leukopenia in Patients Taking Azathioprine
Puran Nepal, Jacy Zanussi, Alyson Dickson, Laura Daniel, Tyne Miller-Fleming, Peter Straub, Adriana Hung, Wei-Qi Wei, Nancy Cox, Michael Stein, QiPing Feng and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Azathioprine is used to treat several autoimmune conditions, but its use is limited by side effects. Leukopenia, a severe, potentially life-threatening side effect is…
Abstract Number: 2224 • ACR Convergence 2022
Genes Causative of Primary Immunodeficiency Are Risk Factors for and Over-expressed in Systemic Lupus Erythematosus
Haley Davis¹, Adam Labonte¹, Katherine Owen², Erika Hubbard¹, Jessica Kain¹, Brian Kegerreis¹, Prathyusha Bachali³, Amrie Grammer⁴ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL BioSolutions, Redmond, WA, ⁴AMPEL LLC, Charlottesville, VA
Background/Purpose: Systemic lupus erythematosus (SLE) is a polygenic autoimmune disease whose specific causes are incompletely understood and for which there exists no single comprehensive diagnostic…
Abstract Number: 0050 • ACR Convergence 2022
Effect of Disease-modifying Anti-rheumatic Drugs on Lung Microenvironment of SKG Mice
Sung Hae Chang¹, Jeongjun Choe², Seon Uk Kim³, Jeong Yeon Kim⁴, Sung Won Lee⁵, Jeong Seok Lee⁶ and Eun Young Lee⁴, ¹Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, Republic of Korea, ²Sungkyunkwan University, Seoul, Republic of Korea, ³Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea, ⁴Seoul National University College of Medicine, Seoul, Republic of Korea, ⁵Sooncheonhyang University College of Medicine, Seoul, Republic of Korea, ⁶Korea Advanced Institute of Science and Technology, KAIST, Graduate school of Medical Science and Engineering, Daejeon, Republic of Korea
Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is one of the pivotal extrapulmonary conditions. However, the pathophysiology of RA-ILD, including the effect of disease-modifying anti-rheumatoid…
Abstract Number: 1141 • ACR Convergence 2022
Consequences of SLE Heterogeneity on the Epigenome and the Drivers Behind
Olivia Castellini-Pérez¹, Athina Spiliopoulou², Guillermo Barturen¹, Andrii Iakovliev², Manuel Martinez-Bueno¹, Elena Carnero-Montoro¹ and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²University of Edinburgh, Edinburgh, Scotland, United Kingdom
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a prototypic systemic autoimmune disease characterized by a complex aetiology and heterogenous symptomatology which has been recently dissected using…
Abstract Number: 2230 • ACR Convergence 2022
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study
Yiming Luo¹, Marcela Ferrada¹, Keith Sikora², Daniel Kastner³, Zuoming Deng⁴, Mengqi Zhang⁵, Hugh Alessi¹, Virginia Kraus⁶, Andrew Allen⁶ and Peter Grayson⁷, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Health Clinical Center, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵University of Pennsylvania, Philadelphia, PA, ⁶Duke University, Durham, NC, ⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
Abstract Number: 0501 • ACR Convergence 2022
Single-molecule Spatial Transcriptomic Analysis Reveals Distinct Cellular Networks in Rheumatoid Arthritis Synovia
Roopa Madhu¹, Kartik Bhamidipati¹, Nghia Millard², Michelle Curtis², Ye Cui³, Youngmi Kim³, Ellen Gravallese⁴, Soumya Raychaudhuri¹, Michael Brenner⁴, ilya Korsunsky¹ and Kevin Wei⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, MA, ³Nanostring Technologies Inc., Seattle, WA, ⁴Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Chronic joint inflammation in rheumatoid arthritis (RA) arises from the interactions of many cell types. Single-cell transcriptomic profiling of RA joints has identified novel…
Abstract Number: 1149 • ACR Convergence 2022
A Novel Mitochondrial Variant as a Predictor for the Rapid Progressive Knee Osteoarthritis Phenotype: Development of a Predictive Model and Functional Studies
Alejandro Durán-Sotuela¹, Mercedes Fernández-Moreno¹, Tamara Hermida-Gómez¹, Sara Relaño¹, Victoria Suárez-Ulloa², vanesa Balboa-Barreiro³, Natividad Oreiro¹, Jorge Vázquez-García¹, FJ Blanco¹ and Ignacio Rego-Pérez¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Plataforma de Bioinformática. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ³Unidad de apoyo a la Investigación. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose: Knee osteoarthritis progression is heterogeneous in the population, being the most aggresive form the rapid progressive knee osteoarthritis (RPKOA). These patients suffer a worsening…
Abstract Number: 2233 • ACR Convergence 2022
Machine Learning Uncovers Novel mRNAs Expressed in Fibromyalgia
Lena Kolb¹, Mark Rudolph¹, Alan Kivitz², Scott Rey¹, Roberta Alexander¹, Anja Kammesheidt³ and Geoffrey Stephens¹, ¹Exagen, Inc., Vista, CA, ²Department of Rheumatology, Altoona Center for Clinical Research, Duncansville, PA, ³self, Laguna Beach, CA
Background/Purpose: Fibromyalgia is a debilitating pain condition that affects roughly 12 million people in the United States. Although preliminary diagnostic criteria have been established by…
Abstract Number: 0500 • ACR Convergence 2021
Clinical Phenotypes of Patients with Systemic Sclerosis with Distinct Molecular Signatures in the Skin
Monica Yang¹, Vivien Goh², Monica Espinoza³, Yiwei Yuan⁴, Julia Lee⁵, Mary Carns⁶, Dinesh Khanna⁷, Zsuzsanna McMahan⁸, Michael Whitfield⁹ and Monique Hinchcliff¹⁰, ¹University of California San Francisco, San Francisco, CA, ²Northwestern University, Chicago, IL, ³Geisel School of Medicine, Hanover, NH, ⁴Dartmouth College, Hanover, NH, ⁵Northwestern University Feinberg School of Medicine, Chicago, IL, ⁶Northwestern University Division of Rheumatology, Chicago, IL, ⁷University of Michigan, Ann Arbor, MI, ⁸Johns Hopkins Rheumatology, Baltimore, MD, ⁹Geisel School of Medicine, Lebanon, NH, ¹⁰Yale School of Medicine, Westport, CT
Background/Purpose: Although two subsets in systemic sclerosis (SSc) have been identified based on degree of skin disease, the current classification system, limited vs. diffuse cutaneous,…

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].