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: 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,…

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