Abstracts tagged "genetics"

Abstract Number: 0519 • ACR Convergence 2021
The Relationship of Genetics and Clinically Suspect Arthralgia in RA Development Assessed Using HC, CSA and RA Patients
Marc Maurits, Fenne Wouters, Ellis Niemantsverdriet, Tom WJ Huizinga, Annette H.M van der Helm-van Mil and Rachel Knevel, Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: The identification of a pre-RA stage of patients with clinically suspect arthralgia (CSA) has proven to be beneficial in the early detection of Rheumatoid…
Abstract Number: 1021 • ACR Convergence 2021
Organic Dust Exposure Induces Post-translational Protein Modifications and a HLA-DR4-dependent Pro-inflammatory Lung Phenotype in a Murine Model of Interstitial Lung Disease
Jill Poole¹, Ted Mikuls¹, Amy Nelson¹, Rohit Gaurav¹, Michael Duryee¹, Geoffrey Thiele¹, Bryant England¹ and Dana Ascherman², ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Environmental and occupational exposures have been epidemiologically linked to the development of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Previous investigation and modeling have also…
Abstract Number: 0522 • ACR Convergence 2021
Genetics of Rheumatoid Arthritis Remission; HLA-SE Associated with Remission in Anti-CCP Positive Patients
Marc Maurits¹, Samantha Jurado Zapata¹, Yann Abraham², Erik van den Akker¹, Anne Barton³, Philip Brown⁴, Andrew P Cope⁵, Isidoro Gonzalez-Alvaro⁶, Carl Goodyear⁷, Annette H.M van der Helm-van Mil¹, Xinli Hu⁸, Tom WJ Huizinga¹, Martina Johannesson⁹, Lars Klareskog¹⁰, Dennis Lendrem¹¹, Iain McInnes¹², Fraser Morton⁷, Caron Paterson⁷, Duncan Porter¹³, Arthur Pratt¹¹, Luis Rodriguez Rodriguez¹⁴, Daniela Sieghart¹⁵, Paul Studenic¹⁶, Suzanne Verstappen¹⁷, Leonid Padyukov⁹, Aaron Winkler¹⁸, John Isaacs¹⁹ and Rachel Knevel¹, ¹Leiden University Medical Center, Leiden, Netherlands, ²Janssen Pharmaceutical Companies of Johnson & Johnson, Beerse, Belgium, ³University of Manchester, Manchester, United Kingdom, ⁴Newcastle University, Newcastle, United Kingdom, ⁵King's College London, London, United Kingdom, ⁶Rheumatology Service. La Princesa University Hospital, Madrid, Spain, ⁷University of Glasgow, Glasgow, United Kingdom, ⁸Pfizer, Saint Peters, MO, ⁹Karolinska Institutet, Stockholm, Sweden, ¹⁰Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, ¹¹Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹²University of Glasgow, School of Medicine, Glasgow, Scotland, United Kingdom, ¹³University of Glasgow, Bearsden, United Kingdom, ¹⁴Hospital Clinico San Carlos, Madrid, Spain, ¹⁵Division of Rheumatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria, Vienna, Austria, ¹⁶Karolinska Institute; & Medical University of Vienna, Stockholm, Sweden, ¹⁷School of Social Sciences, The University of Manchester, Manchester, United Kingdom, ¹⁸Pfizer, Cambridge, MA, ¹⁹Newcastle University, Newcastle upon Tyne, United Kingdom
Background/Purpose: Rheumatoid Arthritis (RA) patients capable of reaching clinical remission potentially have a specific genetic profile that allows them to regain immune tolerance. The identification…
Abstract Number: 1105 • ACR Convergence 2021
Discovering Variants in Suspected Monogenic Systemic Inflammatory Disease: An Adult Case Series
Jason An¹, Madeline Couse¹, Dilan Dissanayake², Daniela Dominguez², Ronald Laxer¹, Christian Marshall¹, Johannes Roth³, Robert Rottapel⁴ and Linda Hiraki², ¹SickKids, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Ottawa, Ottawa, ON, Canada, ⁴St Michael's Hospital, Toronto, ON, Canada
Background/Purpose: Monogenic systemic inflammatory diseases (MSID) are a heterogeneous group of rare conditions caused by single gene variants leading to immune dysregulation. Diagnostic yield of…
Abstract Number: 0524 • ACR Convergence 2021
Development of Biomarker Models to Identify HLA-related Microbiome Associations in Anti-Ro+ Mothers of Children with Neonatal Lupus
Robert Clancy¹, Miranda Marion², Hannah Ainsworth², Marci Beel³, Miao Chang¹, Carla Guthridge³, Joel Guthridge³, Timothy Howard⁴, Peter Izmirly⁵, Joseph Kheir³, Mala Masson¹, Miles Smith³, Judith James³, Jill Buyon⁶ and Carl Langefeld⁷, ¹NYU Grossman School of Medicine, New York, NY, ²Wake Forest University, Winston-Salem, NC, ³Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Wake Forest University, Quakertown, NC, ⁵New York University School of Medicine, New York, NY, ⁶NYU School of Medicine, New York, NY, ⁷Wake Forest University, Winston Salem, NC
Background/Purpose: Anti-Ro autoantibody production often precedes the development of Systemic Lupus Erythematosus (SLE) or Sjogren’s syndrome (SS) by years. For anti-Ro+ mothers enrolled in the…
Abstract Number: 1214 • ACR Convergence 2021
Examining the Relationship Between Shared Epitope, ACPA Seropositivity, and Real-World Drug Effectiveness in Patients with Rheumatoid Arthritis
Kristin Wipfler¹, Joshua Baker², Harlan Sayles³, Xue Han⁴, Sang Hee Park⁴, Keith Wittstock⁴, Ted Mikuls³ and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Nebraska Medical Center, Omaha, NE, ⁴Bristol Myers Squibb, Princeton, NJ
Background/Purpose: The shared epitope (SE) is an amino acid sequence motif coded by several HLA-DRB1 alleles that are overrepresented among people with rheumatoid arthritis (RA).…
Abstract Number: 0525 • ACR Convergence 2021
STEAP3, FZD2 and EGFLAM Are Novel Genetic Risk Loci for Granulomatosis with Polyangitis: A Genome Wide Association Study from UK Biobank
Mehmet Hocaoglu¹, Jamal Mikdashi², Yi-Ju Chen², James Perry² and Charles Hong², ¹University of Maryland Medical Center, Midtown Campus, Baltimore, MD, ²University of Maryland School of Medicine, Baltimore, MD
Background/Purpose: Granulomatosis with Polyangitis (GPA) is a systemic ANCA associated small vessel vasculitis. Prior genetic studies demonstrated a strong association of HLA Class II region…
Abstract Number: 1457 • ACR Convergence 2021
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series
Matthew Koster¹, Taxiarchis Kourelis¹, Kaaren Reichard¹, Tanaz Kermani², David Beck³, Daniela Ospina Cardona⁴, Matthew Samec¹, Abhishek Mangaonkar¹, Kebede Begna¹, Christopher Hook¹, Jennifer Oliveira¹, Samih Nasr¹, Benedict Tiong⁵, Mrinal Patnaik¹, Michelle Burke¹, Clement Michet¹ and Kenneth Warrington⁶, ¹Mayo Clinic, Rochester, MN, ²University of California Los Angeles, West Hills, CA, ³National Institutes of Health, Bethesda, MD, ⁴National Institutes of Health, Germantown, MD, ⁵University of California Los Angeles Medical Center, Culver City, CA, ⁶Mayo Clinic, Rochester, Minnesota
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described myeloid-driven autoinflammatory condition caused by somatic mutations affecting methionine-41 (p.Met41) in the…
Abstract Number: 0528 • ACR Convergence 2021
Interferon Pathway Lupus Risk Alleles Modulate Risk of Death from Acute COVID-19
Ilona Nln¹, Ruth Fernandez Ruiz², Theresa Wampler Muskardin³, Stephanie Tuminello², Mukundan Attur², Eduardo Itturate², Christopher Petrilli², Steven B. Abramson⁴, Aravinda Chakravarti² and Timothy Niewold¹, ¹Colton Center for Autoimmunity NYU School of Medicine, New York, NY, ²NYU Grossman School of Medicine, New York, NY, ³Colton Center for Autoimmunity, NYU School of Medicine, New York, NY, ⁴New York University School of Medicine, New York, NY
Background/Purpose: Type I interferon (IFN) is critical in our defense against viral infections. Increased type I IFN pathway activation is a genetic risk factor for…
Abstract Number: 1577 • ACR Convergence 2021
Interleukin-37: Associations of Plasma Levels and Genetic Variants in Gout
Adela Navratilova¹, Veronika Voclonová², Hana Hulejová², Lucie Andrés Cerezo¹, Markéta Pavlíková³, Viktor Bečvář², Jakub Zavada¹, Karel Pavelka⁴, Ladislav Senolt⁴ and Blanka Stiburkova⁵, ¹Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, ²Institute of Rheumatology, Prague, Czech Republic, ³Department of Probability and Mathematical Statistics, Faculty of Mathematics and Physics, Charles University, Prague, Czech Republic, ⁴Institute of Rheumatology, Department of Rheumatology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic, ⁵Institute of Rheumatology and Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, Prague, Czech Republic
Background/Purpose: IL-37 is an anti-inflammatory cytokine, member of IL-1 family, related to inflammatory and autoimmune diseases. Here we aimed to investigate the association of genetic…
Abstract Number: 0529 • ACR Convergence 2021
COPA Syndrome-associated Mutations in Lung Transplant Recipients for Interstitial Lung Disease
Sarah Beshay¹, Isabella Osuna², Jessica Smith¹, Justin Branch³, Laura Muruato³, Marietta DeGuzman³, Pamela McShane¹, Yuelan Ren¹, Rajeev Singh¹, Manuel Silva Carmona³, Sandeep Sahay¹ and Tiphanie Vogel³, ¹Houston Methodist, Houston, ²Rice University, Houston, TX, ³Baylor College of Medicine, Houston, TX
Background/Purpose: COPA syndrome is a rare monogenic cause of immune-mediated lung disease, and it can mimic rheumatic diseases including rheumatoid arthritis (RA) with ILD, lupus…
Abstract Number: 1579 • ACR Convergence 2021
Phenome-Wide Association of Gout Risk Loci
Oleg Stens¹, Vivian Trang², Steven Cao², Robert Terkeltaub¹ and Rany Salem², ¹University of California San Diego School of Medicine, La Jolla, CA, ²University of California San Diego School of Public Health, La Jolla, CA
Background/Purpose: Gout is a complex disease involving changes in urate biology and inflammatory responses, and is associated with comorbidities including metabolic syndrome and cardiorenal disease.…
Abstract Number: 0532 • ACR Convergence 2021
Development of a Predictive Tool for the Rapid Progressive Knee Osteoarthritis Phenotype: Data from the Osteoarthritis Initiative
Alejandro Durán-Sotuela¹, Mercedes Fernández-Moreno¹, Maria Vázquez-Mosquera¹, Paula Ramos-Louro¹, Andrea Dalmao-Fernández¹, Sara Relaño¹, Victoria Suárez-Ulloa², Vanesa Balboa-Barreiro³, Natividad Oreiro¹, Jorge Vázquez-García¹, Francisco Blanco-García⁴ 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). As Xubias, 15006. A Coruña, España, 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). As Xubias, 15006, 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). As Xubias, 15006. A Coruña, España, A Coruña, Spain, ⁴Unidad de Proteómica. Grupo de Investigación de Reumatología (GIR). Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). C/ As Xubias de Arriba 84, 15006, A Coruña, España.Universidade da Coruña (UDC), Grupo de Investigación de Reumatología y Salud (GIR-S). Departamento de Fisioterapia, Medicina y Ciencias Biomédicas, Facultad de Fisioterapia, Campus de Oza, 15008, A Coruña, España., A Coruña, Spain
Background/Purpose: There is a pressing need of identifying patients suffering the rapid progressive phenotype of Osteoarthritis (RPOA) to implement prevention strategies and to include them…
Abstract Number: 1580 • ACR Convergence 2021
Whole Blood Gene Expression and eQTL Analysis Implicate GGT7 and FADS2 in Gout Pathogenesis
Richard Reynolds¹, Riku Takei¹, Jeffrey Edberg¹, Nicholas Sumpter¹, Tony Merriman² and Megan Leask¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Dunedin, New Zealand
Background/Purpose: Gene expression studies of whole blood represent a powerful approach for understanding the pathogenesis of gout because differentially expressed transcripts may reflect the activation…
Abstract Number: 0533 • ACR Convergence 2021
Identification of a Novel Susceptibility Locus for Small Vessel Vasculitis with Autoantibodies Against Myeloperoxidase
Johanna Dahlqvist¹, Diana Ekman², Bengt Sennblad², Sergey Kozyrev³, Jessika Nordin², Åsa Karlsson³, Jennifer Meadows³, Erik Hellbacher¹, Solbritt Rantapaa-Dahlqvist⁴, Ewa Berglin⁵, Bernd Stegmayr⁵, Bo Baslund⁶, Øyvind Palm⁷, Hilde Haukeland⁷, Iva Gunnarsson⁸, Annette Bruchfeld⁸, Mårten Segelmark⁹, Sophie Ohlsson⁹, Aladdin Mohammad⁹, Anna Svärd¹⁰, Rille Pullerits¹¹, Hans Herlitz¹¹, Annika Söderbergh¹², Gerli Rosengren Pielberg³, Fabiana Farias³, Lina Hultin Rosenberg³, Matteo Bianchi³, Eva Muren³, Roald Omdal¹³, Roland Jonsson¹⁴, Maija-Leena Eloranta³, Lars Ronnblom³, Peter Söderkvist¹⁵, Ann Knight¹⁶, Per Eriksson¹⁵ and Kerstin Lindblad-Toh¹⁷, ¹Uppsala University and University Hospital, Uppsala, Sweden, ²Science for Life Laboratory, Uppsala University, Uppsala, Sweden, ³Uppsala University, Uppsala, Sweden, ⁴Ume University, Umea, Sweden, ⁵Umeå University and University Hospital, Umeå, Sweden, ⁶University of Copenhagen, Copenhagen, Denmark, ⁷Oslo University, Oslo, Norway, ⁸Karolinska Institute, Stockholm, Sweden, ⁹Lund University, Lund, Sweden, ¹⁰Uppsala University, Falun, Sweden, ¹¹Gothenburg University and Sahlgrenska Hospital, Gothenburg, Sweden, ¹²Dept. of Rheumatology, Örebro University Hospital, Örebro, Sweden, ¹³Stavanger University Hospital and University of Bergen, Stavanger, Norway, ¹⁴University of Bergen, Bergen, Norway, ¹⁵Linköping University, Linköping, Sweden, ¹⁶Rheumatology, Institute of Medical Sciences, Uppsala University, Uppsala, Sweden, ¹⁷Broad Institute of MIT and Harvard; and Uppsala University, Boston, MA
Background/Purpose: ANCA-associated vasculitides (AAV) are rare but aggressive autoimmune disorders. The pathogenesis of the disorders is complex and still poorly understood; only a few genetic…

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