Abstracts tagged "genetics"

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: 0172 • ACR Convergence 2020
Early Treatment and IL1RN Single Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis
Marianna Nicoletta Rossi¹, Manuela Pardeo², Denise Pires Marafon², Emanuela Sacco², Chiara Passarelli³, Claudia Bracaglia², Chiara Perrone³, Anna Tulone⁴, Giusi Prencipe⁵ and Fabrizio De Benedetti⁶, ¹Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Lazio, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ³U.O.C. Laboratory of Medical Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁴Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁵Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ⁶Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) represents 10-20% of all chronic arthritis during childhood. The interleukin 1 (IL-1) play a pivotal role in the pathogenesis…
Abstract Number: 1107 • ACR Convergence 2020
IL1RN Polymorphism Predicts Weight Loss, Inflammatory Biomarker Changes and Knee Osteoarthritis Pain Relief After Bariatric Surgery
Jonathan Samuels¹, Fernando Bomfim², Mukundan Attur³, Christine Ren-Fielding⁴, Manish Parikh⁵, Renata La Rocca-Vieira⁶ and Steven B. Abramson⁷, ¹NYU Langone, Rye Brook, NY, ²New York University, Department of Medicine, Division of Rheumatology, Millburn, NJ, ³NYU Langone Health, New York, NY, ⁴NYU Langone Health, New YOrk, ⁵Bellevue Hospital, New York, NY, ⁶NYU, New YOrk, ⁷New York University School of Medicine, New York, NY
Background/Purpose: Symptomatic knee osteoarthritis (SKOA) patients with obesity who undergo bariatric surgery experience knee pain relief, though the reduced mechanical load explains only part of…
Abstract Number: 1899 • ACR Convergence 2020
Life Expectancy a Swiss Cohort of Patients with Ankylosing Spondylitis: A 35-Year Follow-up Study
Zhixiu Li¹, Mohammad Khan², Sjef van der Linden³, Peter Villiger⁴, Heinz Baumberger⁵, Hermine Zandwijk⁶, Matthew Brown⁷ and Muhammad Khan⁸, ¹Queensland University of Technology (QUT), Translational Genomics Group, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Qld, Australia, Brisbane, Queensland, Australia, ²Kent State University, Kent, OH, ³Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ⁴Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁵Retired, Flims, Tajikistan, ⁶Retired, Mortroux, Belgium, ⁷Guy's and St Thomas, NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, King's College London, London, United Kingdom, London, United Kingdom, ⁸Case Western Reserve University, Cleveland OH, Westlake, OH
Background/Purpose: To investigate life expectancy of a Swiss cohort of patients with ankylosing spondylitis (AS) versus general population during 35 years of longitudinal follow up,…
Abstract Number: 0176 • ACR Convergence 2020
Characterization and Molecular Mechanism Underlying NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS)
Alex Wessel¹, Younglang Lee², Eries Lee³, Jiazhi Xu⁴, Somin Kim⁵, Amy Hsu⁶, Jevgenia Rudenko⁷, Clinton Enos⁸, Stephen Brooks³, Zuoming Deng⁹, Bin Lin¹⁰, Daniel Hupalo¹¹, Adriana Almeida de Jesus¹², Daniela Piotto¹³, Maria Teresa Terreri¹⁴, Victoria Dimitriades¹⁵, Dalgard Clifton¹¹, Steven Holland¹⁶, Raphaela Goldbach-Mansky¹⁷, Richard Siegel¹⁸ and Eric Hanson¹⁹, ¹Washington University St. Louis, St. Louis, ²PUsan National University, Pusan, Republic of Korea, ³NIAMS, NIH, Bethesda, ⁴Indiana University School of Medicine, Indianapolis, ⁵Emory University, Atlanta, ⁶NIAID, NIH, Bethesda, ⁷OHSU, Portland, ⁸Eastern Virginia Medical School, Norfolk, ⁹National Institute of Arthritis Musculoskeletal and Skin diseases, Bethesda, ¹⁰Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ¹¹6The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, ¹²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ¹³7Escola Paulista de Medicina/Universidade Federal de São Paulo, Sao Paolo, Brazil, ¹⁴Federal University of São Paulo, São Paulo, Brazil, ¹⁵Division of Infectious Diseases, Immunology & Allergy University of California Davis Health, Sacramento, ¹⁶Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, Bethesda, ¹⁷NIH, Bethesda, ¹⁸Novartis Institutes for BioMedical Research, Basel, Switzerland, ¹⁹Riley Hospital for Children, IUSM, Indianapolis, IN
Background/Purpose: The NF-kB essential modulator (NEMO) is a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in IKBKG encoding NEMO…

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