Abstracts tagged "genomics"

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: 0518 • ACR Convergence 2022
Changes in Skin Fibroblast Polarization Gene Expression Herald Clinical Improvement in Early, Diffuse Cutaneous Systemic Sclerosis
Kimberly Showalter Lakin¹, Deanna Jannat-Khah, DrPH, MSPH¹, Yajas Shah², Olivier Elemento², Aliza Bloostein¹, Jessica Gordon¹, Michael Whitfield³, Barbara White⁴, Dana Orange⁵ and Robert Spiera¹, ¹Hospital for Special Surgery, New York, NY, ²Weill Cornell Medicine, New York, NY, ³Dartmouth Geisel School of Medicine, Department of Biomedical Data Science, Lebanon, NH, ⁴Corbus Pharmaceuticals, Pleasanton, CA, ⁵The Rockefeller University, New York, NY
Background/Purpose: We previously identified a group of genes associated with high alpha-smooth muscle actin (aSMA) and low CD34 fibroblast staining in lesional systemic sclerosis (SSc)…
Abstract Number: 1539 • ACR Convergence 2022
Gene Expression Meta-Analysis Reveals Aging and Cellular Senescence Signatures in Scleroderma-associated Interstitial Lung Disease
Monica Yang¹, Seoyeon Lee², Jessica Neely³, Marina Sirota² and Paul Wolters², ¹UCSF, SF, CA, ²UCSF, SF, ³UCSF Benioff Children's Hospital, San Francisco, CA
Background/Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by diffuse fibrosis and vasculopathy that has potential to affect nearly every organ system. Interstitial lung…

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