Abstracts tagged "genetics"

Abstract Number: 0571 • ACR Convergence 2023
A Polygenic Risk Score for Systemic Lupus Erythematosus (SLE) Discriminates Between Patients with Lupus and Individuals Without Lupus and a Positive Antinuclear Antibody Test
Gul Karakoc¹, Ge Liu¹, Jacy Zanussi², Cecilia Chung², Jorge Gamboa¹, Jonathan Mosley¹, Nancy Cox¹, C. Michael Stein¹ and Vivian Kawai¹, ¹Vanderbilt University Medical Center, Nashville, TN, ²University of Miami, Miami, FL
Background/Purpose: A positive ANA (ANA-POS) test is present in almost all patients with SLE and is also frequently present in other autoimmune (AI) diseases and…
Abstract Number: 1109 • ACR Convergence 2023
Genetic Risk Variants in Hyperuricemia and Gout: Common Disease, Multiple Common and Rare Variant Hypothesis
Blanka Stiburkova¹, Katerina Pavelcova², Jana Masinova¹, Marketa Pavlikova³ and Karel Pavelka⁴, ¹Institute of Rheumatology, Prague, Czech Republic, ²Institute of Rheumatology, Praha 2, Czech Republic, ³Department of Probability and Mathematical Statistics, Faculty of Mathematics and Physics, Charles University, Prague, Czech Republic, ⁴Institut of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Praha, Czech Republic
Background/Purpose: Hyperuricemia is a central feature in the pathogenesis of gout. Hyperuricemia results from an imbalance between endogenous production and excretion of urate; however, the…
Abstract Number: 2045 • ACR Convergence 2023
Treatment Response in a Cohort of Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Ilaria Maccora¹, Arjun Sood², Grant Schulert³, Alexandra Duell³, Preston Land⁴, Cameron C Sapp², Jennifer Huggins³, Tiffany Nguyen², Megan Quilan-Waters³, Sumit Sharma⁵, Sunil Srivastava² and Sheila Angeles-Han⁶, ¹PhD student, in the Area of Drugs and Innovative Treatments, NeuroFARBA Department, University of Florence. Meyer Children's Hospital, Firenze, Italy, ²Cincinnati Eye Institute, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Medical Center, Cincinnati, OH, ⁵Cleveland Clinic, Cleveland, OH, ⁶Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Pediatric uveitis often requires systemic immunomodulatory therapy (IMT) to prevent sight-threatening complications. Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare autoimmune condition caused…
Abstract Number: 0025 • ACR Convergence 2023
Relationship Between Genetic Variants in Cannabinoid Receptor 2 and Self-Reported Effectiveness of Cannabis for Pain Management in Rheumatoid Arthritis
Kristin Wipfler¹, Joanna Zeiger², Adam Cornish¹ and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²Canna Research Foundation, Boulder, CO, ³University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Cannabinoid receptor 2 (CB2) is a member of the cannabinoid receptor family and is encoded by the CNR2 gene. CB2 receptors are found primarily…
Abstract Number: 0579 • ACR Convergence 2023
Sub-types of Ischemic Stroke in Systemic Lupus Erythematosus,-associations with STAT4 and HLA-DRB1 Risk Genotypes
Liisa Hopia¹, Anna Laveskog², Dag Leonard³, Andreas Jonsen⁴, Johanna.T Gustafsson², Iva Gunnarsson⁵, Agneta Zickert⁶, Gunnel Nordmark⁷, Anders Bengtsson⁴, Leonid Padyukov⁸, Johanna Sandling³, Ann-Christine Syvänen⁹, Lars Rönnblom³, Magnus Andersson¹ and Elisabet Svenungsson⁶, ¹Department of Clinical Neuroscience, Unit of Neurology, Karolinska Institutet och Karolinska Universitetssjukhuset, Stockholm, Sweden, ²Karolinska Institutet, Stockholm, Sweden, ³Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ⁴Rheumatology, Department of Clinical Sciences, Lund University, Lund, Sweden, ⁵Department of Medicine Solna, Unit of Rheumatology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden, ⁶Department of Medicine Solna, Unit of Rheumatology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden, ⁷Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden, ⁸Karolinska Institutet, Solna, Sweden, ⁹Department of Medical Sciences, Molecular Medicine, Uppsala University, Uppsala, Sweden
Background/Purpose: Ischemic stroke is 2-3 times more common in patients with SLE as compared to the general population, and genetic susceptibility in the STAT4 and…
Abstract Number: 1136 • ACR Convergence 2023
Challenges in Diagnosing VEXAS Syndrome: Delayed Diagnosis, Misdiagnosis, and Associations with Specific Gene Mutations
Paula García Escudero¹, Marta López i Gómez², Marta López Maraver³, PALOMA VELA⁴, María Rodríguez Laguna⁵, carolina Merino⁶, Ana Victoria Orenes Vera⁷, Clara García Belando⁸, Diego Dios Santos⁹, Jose Alberto Miranda Filloy¹⁰, Francisco Javier Toyos Sáenz de Miera¹¹, Alicia Garcia Dorta¹², Ignacio Vázquez¹³, José Ángel Hernández Beriain¹⁴, MARIA ELVIRA DIEZ ALVAREZ¹⁵, Marta Ibáñez Martínez¹⁶, Beatriz Frade Sosa¹⁷, Judit Font Urgelles¹⁸, Meritxell Salles Lizarzaburu¹⁹, Elena Riera Alonso²⁰, Ernesto Trallero Araguás²¹, Berta Magallanes López²², Joaquín Belzunegui Otano²³, Carlos de Miguel Sánchez²⁴, Zuriñe Ortiz de Zárate Caballero²⁵ and Jaime Calvo Alén²⁶, ¹Hospital Universitario Araba, Bilbao, Spain, ²Hospital Universitario de Araba, Pamplona, Spain, ³Hospital Universitario de Araba, Vitoria, Spain, ⁴Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, ⁵H. Clínico San Carlos, Madrid, Spain, ⁶Rheumatology Department Hospital Universitario Puerta de Hierro, Majadahonda (Madrid), Spain, ⁷H. Arnau de Vilanova, Valencia, Spain, ⁸Hospital Los Arcos del Mar Menor, Murcia, Spain, ⁹Rheumatology department, Complexo Hospitalario Universitario A Coruña (CHUAC). Instituto de Investigación Biomédica A Coruña (INIBIC), A Coruña, Spain, ¹⁰C. H. U. Lucus Augusti, Lugo, Spain, ¹¹Hospital Virgen Macarena, Sevilla, Spain, ¹²Rheumatology Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, ¹³H. U. Dr. Peset, Valencia, Spain, ¹⁴Rheumatology, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain, ¹⁵Rheumatology, Hospital Universitario de León, León, Spain, ¹⁶C. A. U. de Salamanca, Salamanca, Spain, ¹⁷Hospital Clínic de Barcelona, Barcelona, Spain, ¹⁸Hospital Universitario Germans Trías i Pujol, Barcelona, Spain, ¹⁹C. H. de Manresa - Fundació Althaia, Barcelona, Spain, ²⁰Hospital Universitario Mútua Terrassa, Barcelona, Spain, ²¹Department of Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain, ²²Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, ²³Hospital Universitario Donosti, Donosti, Spain, ²⁴Hospital Universitario de Araba, Hematology, VItoria, Spain, ²⁵Hospital Universitario de Araba, Internal Medicine, Vitoria, Spain, ²⁶Hospital Universitario Araba, Vitoria, Spain
Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still…
Abstract Number: 2098 • ACR Convergence 2023
Contribution of Rare Deleterious Exonic Variants in Telomere Related Genes to Interstitial Lung Disease Risk in Patients with Rheumatoid Arthritis
Pierre-Antoine Juge¹, Leticia Kawano-Dourado², Steven Gazal³, Gregory McDermott⁴, Keigo Hayashi⁴, Jing Cui⁵, Marie-Pierre Debray⁶, Lidwine Stervinou-Wemeau⁷, Syvain Marchand-Adam⁸, Christophe Richez⁹, Hilario Nunes¹⁰, Jérôme Avouac¹¹, Rene-Marc Flipo¹², Vincent Cottin¹³, Martin Soubrier¹⁴, Nathalie Saidenberg Kermanac'h¹⁰, Caroline Kannengiesser¹⁵, Raphael Borie¹⁶, Bruno Crestani¹⁷, Tracy J. Doyle⁴, Soumya Raychaudhuri⁴, Elizabeth Karlson⁴, Jeffrey Sparks¹⁸ and Philippe Dieudé¹⁹, ¹Division of Rheumatology, Inflammation, and Immunity Brigham & Women's Hospital, Boston, MA, ²Hospital do Coração (HCor), São Paulo, Brazil, ³University of South California, Los Angeles, CA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital, Boston, MA, ⁶CHU Bichat, Radiology, Paris, France, ⁷CHRU de Lille, Lille, France, ⁸CHU Tours, Tours, France, ⁹Université de Bordeaux, Bordeaux, France, ¹⁰CHU Avicenne, Bobigny, France, ¹¹Service de Rhumatologie, Hôpital Cochin, AP-HP.Centre – Université Paris Cité, Paris, France, ¹²La Lettre du Rhumatologue, Paris, France, ¹³Coordinating Reference Center for Rare Pulmonary Diseases, Louis Pradel Hospital, University of Lyon, INRAE, Lyon, France, ¹⁴Gabriel-Montpied Hospital, Clermont-ferrand, France, ¹⁵CHU Bichat, Paris, France, ¹⁶Bichat-Claude Bernard, Universite de Paris, Paris, France, ¹⁷Hopital Bichat, Paris University, Paris, France, ¹⁸Division of Rheumatology, Inflammation, and Immunity, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, ¹⁹Assistance Publique-Hôpitaux de Paris, Bichat-Claude Bernard University Hospital, INSERM UMR1152, University de Paris Cité, Department of Rheumatology, Paris, France
Background/Purpose: RA-associated interstitial lung disease (ILD) and idiopathic pulmonary fibrosis (IPF) share genetic risk factors such as MUC5B rs35705950. The exact role of telomere related…
Abstract Number: 0028 • ACR Convergence 2023
Adenosine Deaminase 2 Is Expressed as a Short Isoform Lacking Deaminase Activity in the Endothelium: Implications for DADA2 Vasculitis
Andrew Porter¹, Robert Maughan¹, Charis Pericleous¹, Lida Kabir¹, Richard Stratton², Dorian Haskard¹, Pui Lee³, Taryn Youngstein¹ and Justin Mason¹, ¹National Heart & Lung Institute, Imperial College London, London, United Kingdom, ²University College London, London, United Kingdom, ³Division of Immunology, Boston Children's Hospital, Boston, MA
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive condition caused by biallelic variants in the Adenosine deaminase 2 (ADA2) gene. Clinical manifestations…
Abstract Number: 0708 • ACR Convergence 2023
NFKB1 and NFKBIA: Relevant Players in the Pathogenesis of IgA Vasculitis?
Joao Carlos Batista-Liz¹, Verónica Pulito-Cueto¹, María Sebastián Mora-Gil¹, Belén Sevilla-Pérez², María Teresa Leonardo³, Norberto Ortego-Centeno⁴, Ana Peñalba³, Javier Narvaez⁵, luis martin penagos⁶, Emilio Rodrigo⁶, Lara Belmar-Vega⁶, Cristina Gomez-Fernandez⁷, Luis Caminal-Montero⁸, Paz Collado⁹, Miren Uriarte-Ecenarro¹⁰, Esther Vicente Rabaneda¹¹, Esteban Rubio¹², Manuel León Luque¹², Juan María Blanco-Madrigal¹³, Eva Galindez-Agirregoikoa¹⁴, Santos Castañeda¹⁵, Miguel A Gonzalez-Gay¹⁶, Ricardo Blanco¹⁷ and Raquel López-Mejías¹, ¹Rheumatology Department, Immunopathology Group, Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain, ²Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ³Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁴Medicine Department, Universidad de Granada, Granada, 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, ¹⁰Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Spain, ¹¹Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹²Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ¹³Division of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain, ¹⁴Basurto University Hospital, Bilbao, Spain, ¹⁵Hospital Universitario de la Princesa, Madrid, Spain, ¹⁶IDIVAL and School of Medicine, UC, Santander; Department of Rheumatology, IIS-Fundación Jiménez Díaz, Madrid, Santander, Spain, ¹⁷Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
Background/Purpose: Immunoglobulin A Vasculitis (IgAV) is a B-cell-mediated inflammatory disease. NF-kappa B (NF-kB) plays a key role in autoimmunity and inflammation1. In this regard, the…
Abstract Number: 1146 • ACR Convergence 2023
Gene X Environment Paradigm: Exemplified by Selected Cases of Autoinflammatory Diseases
Qingping Yao and Peter Gorevic, Stony Brook University, Stony Brook, NY
Background/Purpose: The current scientific opinion holds that gene and environment (G X E) interactions contribute to certain human diseases. Systemic autoinflammatory diseases (SAIDs) are usually…
Abstract Number: 2115 • ACR Convergence 2023
Genetic Risk Load as a Predictor of Radiographic Damage and Mortality in Female Patients with Rheumatoid Arthritis
Jihye Kim¹, Yeon-Kyung Lee², Youngho Park³, Ayeong Kwon⁴, Young-Chang Kwon¹, Young Bin Joo², Hye-Soon Lee⁵, Kwangwoo Kim⁴, Sang-Cheol Bae⁶ and So-Young Bang², ¹Hanyang University Institute for Rheumatology Research, Seoul, South Korea, ²Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ³Department of Business Statistics, Hannam University, Daejeon, South Korea, ⁴Department of Biology, Kyung Hee University, Seoul, South Korea, ⁵Hanyang University, Guri, South Korea, ⁶Hanyang University Hospital for Rheumatic Diseases and Hanyang University Institute for Rheumatology Research, Department of Rheumatology, Seoul, South Korea
Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune disease characterized by an unpredictable prognosis and increased mortality risk. Although the role of genetics in RA mortality…
Abstract Number: 0030 • ACR Convergence 2023
A Pathogenetic Model of IgG4-related Disease Developed from Familial IKZF1 and UBR4 Gene Variants
Qingxiang Liu¹, Kenneth Warrington¹, Matthew Koster¹, Cornelia M. Weyand² and Jorg Goronzy¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic School of Medicine and Stanford University, Rochester, MN
Background/Purpose: Most autoimmune diseases are polygenic, frequently with more than 100 gene variants contributing to genetic predisposition. Given this complexity, conclusions on disease mechanisms are…
Abstract Number: 0723 • ACR Convergence 2023
Investigating the Effects and Molecular Mechanisms of TRAF5 on the Pathogenesis of SLE Associated Pulmonary Arterial Hypertension
Xiaoyue Deng¹, Junyan Qian¹, Ranran Wang², JIULIANG ZHAO³, Qian Wang⁴, Tianyi Yuan², MENGTAO LI¹ and Xiaofeng Zeng⁵, ¹Peking Union Medical College Hospital, Beijing, China, ²Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ³Beijing Union Medical College Hospital, Beijing, China, ⁴Peking Union Medical College, Beijing, China, ⁵Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
Background/Purpose: Pulmonary arterial hypertension (PAH) is a serious complication in SLE patients, with rapid progression and poor prognosis. In China, approximately 3% of the over…
Abstract Number: 1148 • ACR Convergence 2023
A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome
Ashmia Saif¹, Hafsa Nomani², Frank Hwang², Jie Yang² and Qingping Yao², ¹Stony Brook University Hospital, Syosset, NY, ²Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…
Abstract Number: 2235 • ACR Convergence 2023
Identifying Differentially Expressed Genes to Predict TNF-Alpha and IL-17A Inhibitor Response in Psoriatic Arthritis
Quan Li¹, Darren O'Rielly¹, Kari Jenkins¹, Dianne Codner¹, Dafna Gladman², Amanda Dohey¹, Igor Jurisica³, Vinod Chandran⁴ and Proton Rahman⁵, ¹Memorial University, St. John's, NL, Canada, ²Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada, ³Schroeder Arthritis Institute, Krembil Research Institute and Departments of Medical Biophysics and Computer Science and Faculty of Dentistry, University of Toronto and Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia, ⁴Schroeder Arthritis Institute, Krembil Research Institute, University Health Network and Division of Rheumatology, Department of Medicine, University of Toronto, Toronto, ON, Canada, ⁵Craig Dobbin Research Institute, Memorial University, St. John's, NL, Canada
Background/Purpose: Approximately 30 to 40% of patients are primary non-responders, and the response rate declines after each successive biological therapy. The primary aim is to…

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