Abstracts tagged "genomics"

Abstract Number: 1727 • ACR Convergence 2022
BATF Represses BIM Expression to Sustain the T Cell Anergy Program
Philip Titcombe, Milagros Silva-Morales, Na Zhang and Daniel Mueller, University of Minnesota, Minneapolis, MN
Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…
Abstract Number: 1110 • ACR Convergence 2022
Solving Sarcoidosis: A Transcriptome-based Meta-analysis of Clinical Sarcoidosis Studies Illustrates Shared Pathophysiology, Identifies Candidate Biomarkers and Suggests a Therapeutic Mechanism of JAK Inhibition
Ingrid Lindquist¹, James T. Rosenbaum² and Marcia Friedman³, ¹Oregon Health and Science University, Portland, OR, ²Legacy Devers Eye Institute, Portland, OR, ³Oregon Health and Science University, Division of Arthritis and Rheumatic Diseases, Portland, OR
Background/Purpose: Sarcoidosis is a systemic, non-caseating granulomatous disease driven by a dysregulated immune response to environmental antigens. A wide range of clinical manifestations coupled with…
Abstract Number: 1731 • ACR Convergence 2022
Systemic Sclerosis-Associated Class II HLA Alleles Restrict the Diversity of the CDR3 and the T Cell Receptor Repertoire in African American Patients
Urvashi Kaundal¹, Chloe Borden¹, Cihan Oguz², Jinghua Lu², Emilee Stenson¹, Ami Shah³, Maureen Mayes⁴, Ayo Doumatey⁵, Amy Bentley⁵, Daniel Shriner⁵, Robyn Domsic⁶, Thomas Medsger⁷, Paula Ramos⁸, Richard Silver⁸, Virginia Steen⁹, John Varga¹⁰, Vivien Hsu¹¹, Lesley Ann Saketkoo¹², Elena Schiopu¹³, Dinesh Khanna¹⁴, Jessica Gordon¹⁵, Lindsey Criswell¹⁶, Heather Gladue¹⁷, Chris Derk¹⁸, Elana Bernstein¹⁹, S. Louis Bridges, Jr.¹⁵, Victoria Shanmugam²⁰, Lorinda Chung²¹, Suzanne Kafaja²², Reem Jan²³, Marcin Trojanowski²⁴, Avram Goldberg²⁵, Benjamin Korman²⁶, Settara Chandrasekharappa⁵, Faiza Naz²⁷, Stefania Dell'Orso¹, Adebowale Adeyemo⁵, Charles Rotimi⁵, Elaine Remmers⁵, Francesco Boin²⁸, Fredrick Wigley²⁹, Peter Sun², Daniel Kastner⁵ and Pravitt Gourh³⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ³Johns Hopkins Rheumatology, Baltimore, MD, ⁴Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁵National Human Genome Research Institute, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, PA, ⁷University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Georgetown University School of Medicine, Washington, DC, ¹⁰University of Michigan, Ann Arbor, MI, ¹¹Rutgers-RWJ Medical School, South Plainfield, NJ, ¹²University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹³Michigan Medicine, Ann Arbor, MI, ¹⁴Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁵Hospital for Special Surgery, New York, NY, ¹⁶National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁷Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁸University of Pennsylvania, Philadelphia, PA, ¹⁹Columbia University, New York, NY, ²⁰George Washington University, Great Falls, VA, ²¹Stanford University, Stanford, CA, ²²UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²³University of Chicago, Chicago, IL, ²⁴Boston University School of Medicine, Boston, MA, ²⁵NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁶University of Rochester, Rochester, NY, ²⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²⁸Cedars-Sinai Medical Center, Los Angeles, CA, ²⁹Johns Hopkins University, Baltimore, MD, ³⁰National Institutes of Health, Bethesda, MD
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune, fibrotic disorder that disproportionately affects African Americans (AA). Previous work from our lab and others has suggested a…
Abstract Number: 1118 • ACR Convergence 2022
Monocyte Transcriptomic Analysis Uncovers Heterogeneous Gene Expression Profiles in Systemic Lupus Erythematous (SLE) with and Without Subclinical Atherosclerosis
Laurel Woodridge¹, Elvira Chocano Navarro², George Robinson¹, Paul Ashford¹, Kirsty Waddington³, Anisur Rahman⁴, Christine Orengo⁵, Ines Pineda-Torra⁶ and Elizabeth Jury¹, ¹University College London, London, United Kingdom, ²VIHR, Barcelona, Spain, ³University College London (alumni), London, United Kingdom, ⁴Centre for Rheumatology, Department of Medicine, University College London, London, United Kingdom, ⁵ISMB / UCL, London, United Kingdom, ⁶Cabimer, Sevilla, Spain
Background/Purpose: A leading cause of mortality in SLE is cardiovascular disease (CVD) through accelerated atherosclerosis: the build-up of cells and lipids in the vascular wall.…
Abstract Number: 1734 • ACR Convergence 2022
Identification of Sjögren’s Disease-Associated T Cell Receptors Through Deep Sequencing and Single-Cell Transcriptomics
Ananth Aditya Jupudi¹, Michelle Joachims¹, Christina Lawrence¹, Charmaine Lopez-Davis¹, Bhuwan Khatri¹, Astrid Rasmussen¹, Lida Radfar², Kiely Grundahl¹, R. Hal Scofield², Judith James¹, Joel Guthridge¹, Christopher Lessard¹, Linda F. Thompson¹ and A. Darise Farris¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Oklahoma Health Sciences Center, Oklahoma City, OK
Background/Purpose: Sjögren's disease (SjD) is a chronic rheumatic autoimmune disorder that primarily targets the lacrimal and salivary glands (SG) resulting in dry eyes and dry…
Abstract Number: 1119 • ACR Convergence 2022
Investigating Macrophage Heterogeneity in the Esophagus and Lungs of SSc Patients
Hadijat Makinde¹, Carla Cuda¹, Miranda Gurra¹, Mary Carns², Kathleen Aren², Gaurav Gadhvi¹, Salina Dominguez¹, Jane Dematte³, Darren Brenner⁴, John Pandolfino⁵, G. R. Scott Budinger⁴, Deborah Winter⁶ and Harris Perlman¹, ¹Northwestern University, Chicago, IL, ²Northwestern University Division of Rheumatology, Chicago, IL, ³Northwestern University, Elmhurst, IL, ⁴Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Feinberg School of Medicine, Wilmette, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Our group has made important contributions to an emerging understanding of monocytes and macrophages as central to SSc pathogenesis. There are numerous studies that…
Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
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…

« Previous Page
1
…
8
9
10
11
12
…
18
Next Page »

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].