Abstracts tagged "genetics"

Abstract Number: 2370 • ACR Convergence 2023
C5 as a Genetic Marker for Discriminating Between IgA Vasculitis and IgA Nephropathy?
JOAO CARLOS BATISTA LIZ¹, Vanesa Calvo Río², María Sebastián Mora-Gil¹, Belén Sevilla-Pérez³, María Teresa Leonardo⁴, Ana Peñalba⁴, María Jesús Cabero⁴, Javier Narvaez⁵, luis martin penagos⁶, Emilio Rodrigo⁶, Lara Belmar-Vega⁶, Cristina Gomez-Fernandez⁷, Luis Caminal-Montero⁸, Paz Collado⁹, Antonio Fernandez-Nebro¹⁰, gisela Díaz-Cordovés¹¹, Maryia Nikitsina¹², Esther Vicente Rabaneda¹³, secundino Cigarrán¹⁴, jesús Calviño¹⁵, carmen cobelo¹⁵, Manuel León Luque¹⁶, Esteban Rubio¹⁶, Juan María Blanco-Madrigal¹⁷, Eva Galindez-Agirregoikoa¹⁸, Santos Castañeda¹⁹, Ricardo Blanco²⁰, Verónica Pulito-Cueto¹ and Raquel López-Mejías¹, ¹Rheumatology Department, Immunopathology Group, Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain, ²Valdecilla Hospital, Santander, Spain, ³Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ⁴Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Hospital Universitario de Bellvitge, Barcelona, Spain, ⁶Division of Nephrology, Immunopathology Group, Hospital Universitario Marqués de Valdecilla-DIVAL, Santander, Spain, ⁷Division of Dermatology,Immunopathology Group, Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain, ⁸Internal Medicine Department, Hospital Universitario Central de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain, ⁹Division of Rheumatology, Hospital Universitario Severo Ochoa, Madrid, Spain, ¹⁰Hospital Regional Universitario de Málaga, Malaga, Spain, ¹¹Division of Rheumatology, Hospital Regional Universitario Carlos Haya, Málaga, Spain, ¹²Division of Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹³Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹⁴Division of Nephrology, Hospital da Costa Burela, Lugo, Spain, ¹⁵Division of Nephrology, Hospital Universitario Lucus Augusti, Lugo, Spain, ¹⁶Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ¹⁷Division of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain, ¹⁸Basurto University Hospital, Bilbao, Spain, ¹⁹Hospital Universitario de la Princesa, Madrid, Spain, ²⁰Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
Background/Purpose: Immunoglobulin-A vasculitis (IgAV) and IgA nephropathy (IgAN) are inflammatory conditions that share pathophysiological mechanisms1,2. Similar features are also described between IgAV nephritis (IgAVN) and…
Abstract Number: 0079 • ACR Convergence 2023
CD4 T Cell Repertoire Features in RA Patients with High-risk HLA-DRB1 Alleles
Amit Lakhanpal¹, Kazuyoshi Ishigaki², Anvita Singaraju¹, Alejandro Kochen³, Miriam Fein¹, Soumya Raychaudhuri⁴ and Laura Donlin¹, ¹Hospital for Special Surgery, New York, NY, ²RIKEN, Tokyo, Japan, ³Yale School of Medicine, New Haven, CT, ⁴Brigham and Women's Hospital, Boston, MA
Background/Purpose: A role for CD4 T cells in RA pathology is supported by the effectiveness of T cell therapies, genetic studies implicating T cell gene…
Abstract Number: 0772 • ACR Convergence 2023
MUC5B Promoter Variant and Survival in Rheumatoid Arthritis-Associated Interstitial Lung Disease
Jacob Klein¹, Austin Wheeler¹, Joshua Baker², Yangyuna Yang¹, Punyasha Roul¹, K Wysham³, Gail Kerr⁴, Andreas Reimold⁵, Dana Ascherman⁶, Gary Kunkel⁷, Grant Cannon⁸, Paul Monach⁹, Jill Poole¹, Geoffrey Thiele¹, Ted R Mikuls¹⁰ and Bryant England¹, ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³VA Puget Sound/University of Washington, Seattle, WA, ⁴Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ⁵University of Texas Southwestern Medical Center, Dallas, TX, ⁶University of Pittsburgh, Pittsburgh, PA, ⁷University of Utah, Salt Lake City, UT, ⁸University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁹VA Boston Healthcare System, Boston, MA, ¹⁰Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: The gain of function MUC5B rs35705950 promoter variant is the strongest genetic risk factor for the development of RA-ILD (specific to a usual interstitial…
Abstract Number: 1710 • ACR Convergence 2023
Genetic Associations in Juvenile Idiopathic Arthritis Determined with an Electronic Health Record Based Approach
Elizabeth Jasper, Srushti Gangireddy, Henry Ong, Jacklyn Hellwege, Todd Edwards, Digna Velez Edwards, Wei-Qi Wei and Anna Patrick, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Juvenile idiopathic arthritis (JIA) encompasses multiple forms of pediatric autoimmune arthritis. Research studies in JIA are complicated by disease heterogeneity and difficulties gathering large…
Abstract Number: 2450 • ACR Convergence 2023
Gene by Respiratory Disease Interactions Associated with Developing Rheumatoid Arthritis
Vanessa Kronzer¹, Keigo Hayashi², Cynthia Crowson¹, John Davis¹, Gregory McDermott², Jing Cui³, Elena Losina³, Pierre-Antoine Juge⁴, James Cerhan¹ and Jeffrey Sparks⁵, ¹Mayo Clinic, Rochester, MN, ²Brigham and Women's Hospital, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation, and Immunity Brigham & Women's Hospital, Boston, MA, ⁵Division of Rheumatology, Inflammation, and Immunity, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Cigarette smoking, textile dust, and occupational inhalants all strongly interact with the Human Leukocyte Antigen (HLA) shared epitope for risk of seropositive RA. Recently,…
Abstract Number: 0130 • ACR Convergence 2023
Association of HLA-DRB1 Alleles with Coronary Artery Calcium, Abdominal Aortic Calcium, and Carotid Intima-media Thickness in a Multi-ethnic Community-living Population
Manmeet Kaur¹, Ronit Katz², Michael H. Criqui¹, Maripat Corr³, Wendy S. Post⁴, Matthew Budoff⁵, Gerald P. Morris³ and Jan M. Hughes-Austin³, ¹University of California San Diego, San Diego, CA, ²University of Washington, Seattle, WA, ³University of California San Diego, La Jolla, CA, ⁴Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Harbor-UCLA Medical Center, Torrance, CA
Background/Purpose: Human leukocyte antigen (HLA) DRB1 alleles with specific common amino acids referred to as the shared epitope (SE) have been linked to endothelial dysfunction…
Abstract Number: 0816 • ACR Convergence 2023
Additive Association of ABCG2 rs4148155 and SLC22A12 rs75786299 Polymorphisms with Hyperuricemia, Gout and Nephrolithiasis, a Hospital-Based, Case-Control Study
Ching-Tsai Lin¹, I-Chieh Chen², Wen-Nan Huang¹, Yi-Hsing Chen¹, Ching-Heng Lin² and Yi-Ming Chen¹, ¹Taichung Veterans General Hospital, Taichung, Taiwan, ²Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan
Background/Purpose: This study aimed to investigate the interaction between the ABCG2 rs4148155 and SLC22A12 rs75786299 variants and their association with incident gout and nephrolithiasis in…
Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Adriana Almeida de Jesus¹, Jonas J. Papendorf², Frederic Ebstein³, Sara Alehashemi⁴, Daniela Pioto⁵, Anna Kozlova⁶, Maria Teresa TErreri⁷, Anna Shcherbina⁶, Andre Rastegar⁸, Marta Rodrigues⁹, Renan Pereira¹⁰, Sophia Park¹¹, Bin Lin¹², Kat Uss¹¹, Ana Flavia da Silva Pina⁵, FLAVIO SZTAJNBOK¹³, Sofia Torreggiani¹⁴, Jennifer Stoddard¹⁵, Julie Niemela¹⁵, Sergio Rosenzweig¹⁵, Adriana Fonseca¹⁶, Marietta De Guzman¹⁷, Nicole Micheloni⁵, Melissa Fraga⁵, Sandro Perazzio¹⁸, Raphaela Goldbach-Mansky¹⁹ and Elke Krueger², ¹NIAID, NIH, Bethesda, MD, ²Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ³Nantes Université, Nantes, France, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ⁶Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁷UNIFESP, São Paulo, Brazil, ⁸NIH, Bethesda, MD, ⁹Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁰Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, ¹¹Translational Autoinflammatory Diseases Section, LCIM, NIAID, NIH, Bethesda, MD, ¹²Translational Autoinflammatory Diseases Section l LCIM, NIAID, NIH, Bethesda, MD, ¹³UFRJ/UERJ, São Paulo, Brazil, ¹⁴University of Maryland Baltimore, Baltimore, MD, ¹⁵Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, ¹⁶Instituto de Puericultura e Pediatria Martagao Gesteira / Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Baylor College of Medicine, Houston, TX, ¹⁸Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil, ¹⁹NIH/NIAID, Potomac, MD
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…
Abstract Number: 2504 • ACR Convergence 2023
The Effect of Inflammatory Conditions on the Regulation of Canonical and Non-canonical NF-kB Pathways via Bcl11b
Sara Parsa¹, Saeid Rahmani², Nadine Davelaar¹, Adriana M.C.mus¹ and Erik Lubberts¹, ¹Erasmus Medical Center, Rotterdam, Netherlands, ²Institute for Research in Fundamental Sciences, Tehran, Iran
Background/Purpose: Bcl11b, a zinc finger bi-functional transcription factor, is highly expressed in various tissues during development and differentiation, including stromal cells. It has been shown…
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…

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