Abstracts tagged "genetics"

Abstract Number: 0166 • ACR Convergence 2023
Annual Economic Burden for Patients with Familial Hypophosphatemia in the United States
Zhiyi Li¹, Elizabeth Marchlewicz², Danae Black², Hana Schwartz², Yang Zhao¹ and Erik Imel³, ¹Kyowa Kirin North America, Bedminster, NJ, ²Merative, Cambridge, MA, ³Indiana University School of Medicine, Indianapolis, IN
Background/Purpose: Familial hypophosphatemia (FH) is most commonly due to phosphate regulating endopeptidase X-linked (PHEX) gene mutations resulting in renal phosphate wasting, which leads to rickets,…
Abstract Number: 0917 • ACR Convergence 2023
Role of Immunoglobulin Polygenic Risk in Systemic Lupus Erythematosus
Victor Gothefors-Holm¹, Sarah Reid¹, Ahmed Sayadi¹, Maija-Leena Eloranta¹, Martina Frodlund², Karoline Lerang³, Andreas Jonsen⁴, Solbritt Rantapää-Dahlqvist⁵, Anders Bengtsson⁴, Anna Rudin⁶, Oyvind Molberg³, Christopher Sjöwall², Johanna Sandling¹, Lars Rönnblom¹ and Dag Leonard¹, ¹Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden, ³Department of Rheumatology, Oslo University Hospital, Oslo, Norway, ⁴Rheumatology, Department of Clinical Sciences, Lund University, Lund, Sweden, ⁵Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden, ⁶Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease partly characterized by production of autoantibodies, causing inflammation and tissue damage. In this study…
Abstract Number: 1783 • ACR Convergence 2023
Integrative Functional Genomics Points to Natural Killer Cells as Key Drivers in the Pathogenesis of Ankylosing Spondylitis
Marcos Chiñas¹, Daniela Fernandez-Salinas¹, Vitor Aguiar¹, Victor Caballero-Nieto², Micah Lefton³, Joerg Ermann⁴ and Maria Gutierrez-Arcelus¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Montpellier, France, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not…
Abstract Number: 2600 • ACR Convergence 2023
Clonal Hematopoiesis Is Associated with Giant Cell Arteritis
Background/Purpose: Giant cell arteritis (GCA) is an age-related vasculitis of large and medium vessels. Prior population studies have identified an association between GCA and hematologic…
Abstract Number: 0258 • ACR Convergence 2023
Understanding Monogenic Behçet’s Disease Pathophysiology: Impact of Pathogenic Variant L227X Associated with Autoinflammatory A20 Haploinsufficiency on Cellular Survival and Proliferation
Patricia Aires¹, Daniela Pioto¹, Maria Teresa TErreri² and Sandro Perazzio³, ¹Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ²UNIFESP, São Paulo, Brazil, ³Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil
Background/Purpose: A20, encoded by TNFAIP3, plays a critical role in NF-κB pathway regulation. A20 haploinsufficiency is a monogenic disorder form of Behçet's disease with a…
Abstract Number: 0918 • ACR Convergence 2023
Network Analysis of Genome Sequences Identifies Important Pathways in the Pathogenesis of Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Sneha Dass¹, Linda Hiraki², Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng⁶, Mariana Kaplan⁷, Luis Franco⁸ and Laura Lewandowski⁹, ¹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Silverman, Toronto, ON, Canada, ⁴Paediatric Rheumatology, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁷Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, ⁸Functional Immunogenomics Section, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD, ⁹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but high twin/sibling concordance rates suggest…
Abstract Number: 1791 • ACR Convergence 2023
Exploring the Mechanism of Anti-TNFα Therapy Non-response in Psoriatic Arthritis: The Role of TNF Receptor 2 Polymorphisms rs1061622
James Sullivan¹, Vandana Rai², Jennifer Harvey², Vincent Del Signore², Unnikrishnan Chandrasekharan² and M. Elaine Husni³, ¹Cleveland Clinic Lerner College of Medicine, Cleveland, OH, ²Cleveland Clinic, Cleveland, OH, ³Cleveland Clinic / Department of Rheumatic and Immunologic Diseases, Cleveland, OH
Background/Purpose: Despite the widespread use of anti-TNFα therapy in psoriatic arthritis (PsA), a significant proportion of patients fail to achieve a complete treatment response. There…
Abstract Number: PP11 • ACR Convergence 2023
We Suffered For Decades, But Then She Was Born
Ian Stedman¹ and Barbara Stedman², ¹Canadian Autoinflammatory Network, Vaughan, ON, Canada, ²Canadian Autoinflammatory Network, Turkey Point, ON, Canada
Background/Purpose: I was born in 1981; my mother in 1949; and my grandmother in 1926. Our story runs at least four generations deep, that we…
Abstract Number: 0269 • ACR Convergence 2023
Acute Kidney Injury and Plasma Cell-Rich Acute Interstitial Nephritis in VEXAS Syndrome: An Under-recognized Disease Feature
Matthew Koster, Loren HerreraHernandez, Lihong Bu, Daniel Montes, Samih Nasr, Lynn Cornell, Kenneth Warrington, Mrinal S. Patnaik, Abhishek A. Mangaonkar and Kambiz Kalantari, Mayo Clinic, Rochester, MN
Background/Purpose: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified autoinflammatory disease with a large variety of disease manifestations. While recurrent fever,…
Abstract Number: 0927 • ACR Convergence 2023
A Complex Interplay Among Gut Lachnoclostidium, HLA Haplotype DRB1*07:01, and the TNF Superfamily in Anti-Ro+ Women with a Spectrum of Preclinical and Clinical Autoimmunity Whose Children Have Neonatal Lupus
Robert Clancy¹, Caroline Izmirly¹, Miranda Marion², Nicola Fraser¹, Joel Guthridge³, Timothy Howard², Peter Izmirly⁴, Mala Masson⁵, Jill Buyon¹, Judith James³ and Carl Langefeld⁶, ¹NYU Grossman School of Medicine, New York, NY, ²Wake Forest University, Winston-Salem, NC, ³Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴New York University School of Medicine, New York, NY, ⁵New York University, New York, NY, ⁶Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Mothers of children with neonatal lupus (NL) are often clinically asymptomatic or have insufficient criteria for a formal rheumatologic diagnosis, despite having high titers…
Abstract Number: 1916 • ACR Convergence 2023
Clinical Features of the Patients with NLRP1 Gene Variants and a Systemic Autoinflammatory Phenotype
Shirkhan Amikishiyev¹, Tuğba Kalaycı², Rabia Deniz³, Yasemin Yalçınkaya⁴, Bahar Artim-Esen¹, Murat Inanc¹, Ayla Sahin², Sema Sırma Ekmekci⁵, Neslihan Abacı⁵, Sukru Ozturk², Sukru Palanduz² and Ahmet Gul¹, ¹Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ²Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³Division of Rheumatology, University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
Background/Purpose: Although NLRP1 was the first identified member of the NOD-like receptors family, its role as a sensor of pathogen- or damage-associated signals and its…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 0930 • ACR Convergence 2023
Genetic Risk Profiles of Patients with Lupus Nephritis to Identify Those at Risk for Kidney Deterioration and Eventual Damage
Aastha Khatiwada¹, bethany wolf², Isabelle Ayoub³, Juan Mejia-Vilet⁴, Ana Malvar⁵, Carl Langefeld⁶, Brad Rovin³, Jim Oates² and Betty Tsao², ¹National Jewish Health, Denver, CO, ²Medical University of South Carolina, Charleston, SC, ³Ohio State University, Columbus, OH, ⁴Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico, ⁵Hospital Fernandez, Buenos Aires, Argentina, ⁶Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Many genetic variants are associated with lupus nephritis (LN). Yet, the majority of associated variants have a small effect size; hence, they convey small…
Abstract Number: 1921 • ACR Convergence 2023
Clinical Spectrum of VEXAS Syndrome in a Rheumatology Department
Herman Mann¹, Blanka Stiburkova², Katerina Pavelcova¹, Monika Belickova³, Cyril Salek³, Jana Juhaszova¹ and Jiri Vencovsky⁴, ¹Institute of Rheumatology, Praha 2, Czech Republic, ²Institute of Rheumatology, Prague, Czech Republic, ³Institute of Hematology and Blood Transfusion, Praha 2, Czech Republic, ⁴Institute of Rheumatology, Prague, Czech Republic, Department of Rheumatology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
Background/Purpose: VEXAS (vacuoles, E1 activating enzyme, X-linked, auto-inflammatory, somatic) syndrome is a clinically serious and potentially fatal adult-onset disease caused by somatic mutations in the…
Abstract Number: 0421 • ACR Convergence 2023
Bioinformatics Platform to Study the Genetics of Biologic DMARD Non-responders: Design and Protocol of the RA Non-responders to Treatment (RANT) Study
Gregory McDermott¹, Mary Jeffway¹, Thany Seyok¹, Harrison Zhang², Kumar Dahal¹, Dana Weisenfeld¹, Margaret Vella³, Tracy Johansson⁴, Gabriela Schmajuk⁵, Kaleb Michaud⁶, Cassandra Perry³, Susanne Churchill³ and Katherine Liao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Harvard Medical School, Boston, MA, ⁴American College of Rheumatology, Atlanta, GA, ⁵UCSF / SFVA, San Francisco, CA, ⁶University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Although the modern RA treatment armamentarium has led to significant improvements in response rates and outcomes, some RA patients inadequately respond to multiple lines…

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