Abstracts tagged "genetics"

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…
Abstract Number: 1581 • ACR Convergence 2021
Genetic Effects on the Transition from Hyperuricemia to Gout
Nicholas Sumpter¹, Riku Takei¹, Richard Reynolds¹ and Tony Merriman², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Dunedin, New Zealand
Background/Purpose: There is clear evidence of genetic control of hyperuricemia resulting in increased gout risk, however genetic control of the transition from hyperuricemia to gout…
Abstract Number: 0576 • ACR Convergence 2021
Associations of the MUC5B Promoter Variant with Timing of Articular Diagnosis and Interstitial Lung Disease in Rheumatoid Arthritis
Gregory McDermott¹, Ritu Gill², Staci Gagne³, Suzanne Byrne³, Weixing Huang³, Jing Cui⁴, Lauren Prisco⁵, Alessandra Zaccardelli³, Lily Martin³, Nancy Shadick⁶, Paul Dellaripa³, Tracy Doyle⁷ and Jeffrey Sparks³, ¹Brigham and Women's Hospital, Brookline, MA, ²Beth Israel Deaconess Medical Center, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital, Pound Ridge, MA, ⁶Brigham & Women's Hospital, Boston, MA, ⁷Brigham and Women's Hospital, West Roxbury, MA
Background/Purpose: The common promoter variant of MUC5B (G >T, rs35705950) is associated with increased mucin 5B production in lung parenchyma and is an established genetic…
Abstract Number: 1658 • ACR Convergence 2021
Risk of Other Autoimmune Conditions Among Relatives of Patients with Rheumatoid Arthritis
Katherine Liao¹, Thany Seyok¹ and Lisa Cannon-Albright², ¹Brigham and Women's Hospital, Boston, MA, ²University of Utah School of Medicine, Salt Lake City, UT
Background/Purpose: Autoimmune conditions appear to cluster in families, as may be expected by shared genetic risk factors in conditions such as rheumatoid arthritis (RA), autoimmune…
Abstract Number: 0669 • ACR Convergence 2021
Early-Onset Gout (EOG) Patients Are an Important and Recalcitrant Phenotype Warranting Further Investigation: A Systematic Review
Anthony Amatucci¹, Brian LaMoreaux² and David Bulbin³, ¹Horizon Therapeutics, West Orange, NJ, ²Horizon Therapeutics plc, Deerfield, IL, ³Geisinger Health System, Danville, PA
Background/Purpose: Data suggests that the number of patients with early-onset gout (EOG), defined as patients under the age of 40 years, is increasing1. There is…
Abstract Number: 1928 • ACR Convergence 2021
In Vitro and In Vivo Evidence for DOCK8 as a Risk Allele for Cytokine Storm Syndrome, Including COVID-19 and MIS-C

Randy Cron¹, Mingce Zhang¹, Niansheng Chu², Devin Absher³, John Bridges¹, Amanda Schnell¹, Anshul Vagrecha⁴, Shannon Lozinsky⁴, Suchitra Acharya⁴, Carolyn Levy⁴, Winn Chatham¹ and Edward Behrens², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Pennsylvania, Philadelphia, PA, ³HudsonAlpha Institute for Biotechnology, Huntsville, AL, ⁴Hofstra/Northwell School of Medicine, Hempstead, NY
Background/Purpose: Cytokine storm syndromes (CSS) are frequently fatal complications of a variety of oncologic, rheumatic, and infectious diseases. Many patients with CSS possess heterozygous missense…
Abstract Number: 0672 • ACR Convergence 2021
Does Obesity Affect Gout Risk Differently Among Genetically Predisposed Individuals?: Sex-Specific Prospective Cohort Study Findings over >32 Years
Chio Yokose¹, Natalie McCormick², Na Lu³, Amit Joshi² and Hyon K. Choi⁴, ¹Massachusetts General Hospital, Waltham, MA, ²Massachusetts General Hospital, Boston, MA, ³Arthritis Research Canada, Vancouver, BC, Canada, ⁴Massachusetts General Hospital, Lexington, MA
Background/Purpose: Two recent analyses of the Global Burden of Disease Study reported on the rising global burden of gout (Safiri A&R 2020, Xia Rheumatology 2020).…
Abstract Number: 0017 • ACR Convergence 2021
Lessons Learnt from Associations Between Anti-modified Protein Antibodies and Risk Factors: Human Leukocyte Antigen – Shared Epitope Alleles Solely Associate with Anti-citrullinated Protein Antibodies
Tineke J van wesemael, Annemarie L. Dorjee, Tom WJ Huizinga, Annette H.M van der Helm-van Mil, René Toes and Diane van der Woude, Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: Rheumatoid arthritis (RA) is characterized by the presence of auto-antibodies to post translationally modified proteins (anti-modified protein antibodies (AMPA)): anti-citrullinated protein antibodies (ACPA), anti-carbamylated…
Abstract Number: 0776 • ACR Convergence 2021
Genetics of Neonatal Lupus Erythematosus Risk and Specific Manifestations
Melissa Misztal¹, Fangming Liao², Talia Diaz², Zeynep Baskurt², JingJing Cao², Daniela Dominguez², Deborah Levy², Andrea Knight³ and Linda Hiraki², ¹The Hospital for Sick Children, Oakville, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Neonatal lupus erythematosus (NLE) is a passively acquired autoimmune disease in infants, secondary to the transplacental passage of maternal autoantibodies against Ro and/or La.…

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