Abstracts tagged "genetics"

Abstract Number: 0015 • ACR Convergence 2023
Genetic Predisposition to a Positive Antinuclear Antibody Test Is Not Associated with Increased Risk of Disease
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: Antinuclear antibodies (ANA) are biomarkers that are frequently used in the diagnosis of common autoimmune (AI) disorders, but are also present in ~12-20% of…
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…

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