ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 0298 • ACR Convergence 2020

    Local Genetic Ancestry Associations with Clinical Features of Systemic Lupus Erythematosus

    Olivia Solomon1, Cristina Lanata2, Cameron Adams1, Joanne Nititham3, Kim Taylor3, Sharon Chung3, Bernardo Pons-Estel4, Teresa Tusié-Luna5, Betty Tsao6, Eric Morand7, Marta Alarcón-Riquelme8, Lisa Barcellos1 and Lindsey Criswell9, 1University of California, Berkeley, Berkeley, CA, 2UCSF, San Francisco, CA, 3University of California, San Francisco, San Francisco, CA, 4Centro Regional de Enfermedades Autoinmunes y Reumáticas (GO-CREAR), Rosario, Santa Fe, Argentina, 5Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran and Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de Mexico, Mexico City, Mexico, 6Medical University of South Carolina, Charleston, 7Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia, 8Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Granada (GENYO), Granada, Spain, 9Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA

    Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations which are known to vary in severity by race. Health disparities in…
  • Abstract Number: 1194 • ACR Convergence 2020

    MUC5B Promoter Variant rs35705950 and Risk Stratification for Rheumatoid Arthritis – Interstitial Lung Disease

    Pierre-Antoine Juge1, Fabienne Louis-Sidney2, Benjamin Granger3, Joanna Kedra4, Marie-Pierre Debray5, Esther Ebstein1, Raphaël Borie6, Arnaud Constantin7, Bernard Combe8, Rene-Marc Flipo9, Xavier Mariette10, Olivier Vittecoq11, Alain Saraux12, Guillermo Carvajal Alegria13, Jean Sibilia14, Francis Berenbaum15, Caroline Kannengiesser16, Bruno Crestani6, Catherine Boileau16, Bruno Fautrel17 and Philippe Dieude18, 1Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 2Service de Rhumatologie, CHU de Fort de France, Martinique, France, Fort de France, France, 3Département de Biostatistiques, Santé Publique et Information Médicale, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Paris, France, 4Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique, UMR S1136, Paris, France, Paris, France, 5Université de Paris, Service de Radiologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 6Université de Paris, Service de Pneumologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 7Hospital Pierre Paul Riquet, Toulouse, France, 8University of Montpellier, Montpellier, France, 9Lille University Hospital, Lille, France, 10Paris-Sud University, Rueil-Malmaison, France, 11University Hospital of Rouen, Rouen, France, 12Department of Rheumatology, UBO, CHU, INSERM 1227 (LBAI), Brest, France, 13CHU de Brest, Service de Rhumatologie, Brest, France, 14CHU Strasbourg, Service de Rhumatologie, Strasbourg, France, 15AP-HP, Hôpital Saint-Antoine, Service de Rhumatologie, Centre de Recherche Saint-Antoine, INSERM UMR_S 938,Sorbonne Université, Paris, 75012, France, Paris, France, 16Université de Paris, Hôpital Bichat, Service de Génétique, AP-HP, Paris, Paris, France, 17Sorbonne University, INSERM, IPLES; Pitié-Salpêtrière Hospital, Paris, Ile-de-France, France, 18Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France

    Background/Purpose: Interstitial lung disease (ILD) is an extra-articular manifestation of rheumatoid arthritis (RA) detected in 20 to 60% of patients with RA on high-resolution computed-tomography…
  • Abstract Number: 0299 • ACR Convergence 2020

    The Minor Protective Allele at rs1876453 Is Associated with Increased Age of Onset of Systemic Lupus Erythematosus

    Ani Oganesyan1, Jennifer Kelly2, Stuart Glenn2, Adam Adler2, Adrienne Williams3, Mary Comeau4, Julia Ziegler5, Miranda Marion5, Marta Alarcón-Riquelme6, Graciela Alarcón7, Juan-Manuel Anaya8, Sang-Cheol Bae9, Dam Kim9, Lee Hye-Soon9, Lindsey Criswell10, Barry Freedman11, Gary Gilkeson12, Joel Guthridge13, Chaim Jacob14, Judith James15, Diane Kamen16, Joan Merrill17, Kathy Moser Silvis18, Timothy Niewold19, Michelle Petri20, Rosalind Ramsey-Goldman21, John Reveille22, Hal Scofield23, Anne Stevens24, Luis Vilá25, Timothy Vyse26, Kenneth Kaufman27, John Harley28, Carl Langefeld5, Patrick Gaffney2, Elizabeth Brown29, Jeffrey Edberg7, Robert Kimberly7, Betty Tsao12, Daniela Ulgiati30, Kenneth Jones31 and Susan Boackle32, 1Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 2Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 3Department of Biostatistical Sciences and Center for Public Health Genomics Wake Forest School of Medicine, Winston-Salem,, NC, 4Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine; MC Analytics, Winston-Salem, NC, 5Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC, 6Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Granada (GENYO), Granada, Spain, 7Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 8Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia, 9Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea, 10Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA, 11Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem,, NC, 12Division of Rheumatology, Medical University of South Carolina, Charleston, SC, 13Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oaklahoma, OK, 14Department of Medicine, University of Southern California, Los Angeles, CA, 15Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, 16Medical University of South Carolina, Charleston, SC, 17Department of Clinical Pharmacology, Oklahoma Medical Research Foundation, Oklahoma City, OK, 18Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 19Colton Center for Autoimmunity, NYU School of Medicine, New York, NY, 20Johns Hopkins University School of Medicine, Baltimore, 21Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, 22Department of Internal Medicine, University of Texas, Houston, TX, 23Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation; Department of Medicine, University of Oklahoma Health Sciences Center; US Department of Veterans Affairs Medical Center, Charleston, SD, 24Janssen Pharmaceuticals, Spring House, PA, 25Division of Rheumatology, Department of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, 26Division of Genetics and Molecular Medicine and Immunology, King’s College, London, United Kingdom, 27Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, 28Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, 29Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, 30School of Pathology and Laboratory Medicine, Centre for Genetic Origins of Health and Disease, The University of Western Australia, Crawley, Australia, 31Harold Hamm Diabetes Center, University of Oklahoma Health Science Center, Oklahoma City, OK, 32Division of Rheumatology, University of Colorado School of Medicine; Denver Veterans Affairs Medical Center, Aurora, CO

    Background/Purpose: Systemic lupus erythematosus (SLE) is a clinically heterogenous autoimmune disease characterized by autoantibody- and complement-mediated inflammatory damage to multiple organ systems. We previously showed…
  • Abstract Number: 1195 • ACR Convergence 2020

    MUC5B rs35705950 and Rheumatoid Arthritis Associated Interstitial Lung Disease Progression

    Pierre-Antoine Juge1, Joshua Solomon2, Romain Garofoli3, Joyce S. Lee4, Fabienne Louis-Sidney5, Esther Ebstein1, Jorge Rojas-Serrano6, Montserrat I. Gonzalez-Perez6, Mayra Mejia6, Ivette Buendia-Roldan6, Ramces Falfan-Valencia7, Enrique Ambrocio-Ortiz7, Effrosyni Manali8, Spyros A. Papiris8, Theofanis Karageorgas9, Dimitrios Boumpas9, Katarina Antoniou10, Coline H.M. van Moorsel11, Joanne van Der Vis11, Yaël A. de Man11, Jan C. Grutters11, Caroline Kannengiesser12, Raphaël Borie13, Lidwine Wemeau-Stervinou14, Rene-Marc Flipo15, Hilario Nunes16, Yurdagul Uzunhan17, Dominique Valeyre18, Nathalie Saidenberg Kermanac'h19, Marie-Christophe Boissier20, Christophe Richez21, Thierry Schaeverbeke22, Tracy J. Doyle23, Paul Wolters24, Marie-Pierre Debray25, Catherine Boileau12, Raphaël Porcher26, Bruno Crestani13, David A. Schwartz4 and Philippe Dieude27, 1Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 2National Jewish Health, Denver, CO, 3Hôpital Cochin, Service de Rééducation, Paris, Paris, France, 4Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA, Aurora, CO, 5Service de Rhumatologie, CHU de Fort de France, Martinique, France, Fort de France, France, 6Interstitial Lung Disease & Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias, Ismael Cosío Villegas, México City, México, Mexico, Mexico, 7HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas. Mexico City, Mexico, Mexico, Mexico, 82nd Pulmonary Medicine Department, University Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Greece, Athens, Greece, 9Rheumatology and Clinical Immunology Unit, 4th Department of Internal Medicine, University Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Greece, Athens, Greece, 10PS Department of Respiratory Medicine & Laboratory of Molecular & Cellular Pneumonology, Faculty of Medicine, University of Crete, Crete, Greece, Heraklion, Greece, 11St Antonius ILD center of excellence, St Antonius ziekenhuis, Nieuwegein, The Netherlands, Nieuwegein, Netherlands, 12Université de Paris, Hôpital Bichat, Service de Génétique, AP-HP, Paris, Paris, France, 13Université de Paris, Service de Pneumologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 14CHRU de Lille, Service de Pneumologie et Immuno-Allergologie, Centre de compétence des maladies pulmonaires rares, FHU IMMINENT, Lille, France, Lille, France, 15Lille University Hospital, Lille, France, 16Department of Pulmonology, Hôpital Avicenne, APHP, Bobigny, France, Bobigny, France, 17Hôpital Avicennes, Service de Pneumologie, AP-HP, Bobigny, Bobigny, France, 18Hôpital Avicenne, Service de pneumologie, AP-HP, Bobigny, Bobigny, France, 19Hôpital Avicennes, Service de Rhumatologie, AP-HP, Bobigny, Bobigny, France, 20Hôpital Avicenne, Service de Rhumatologie, AP-HP, Bobigny, Bobigny, France, 21Rheumatology Hospital, Pelligrin Hospital, Bordeaux University Hospital, Bordeaux, France, 22CHU de Bordeaux, Service de Rhumatologie, Bordeaux, France, 23Brigham and Women's Hospital, West Roxbury, MA, 24University of California, San Francisco, San Francisco, CA, 25Université de Paris, Service de Radiologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, 26Centre d’Epidémiologie Clinique, AP-HP, Hôpital Hôtel-Dieu, F-75004 Paris, France, Paris, France, 27Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France

    Background/Purpose: Rheumatoid arthritis (RA) associated interstitial lung disease (ILD) and idiopathic pulmonary fibrosis (IPF) sharephenotypic and genotypic similarities. Recently, in a large international genetic association…
  • Abstract Number: 0301 • ACR Convergence 2020

    Genetic Associations and Polygenic Risk Assessment in Incomplete Lupus Erythematosus

    Matthew Slief1, Jeremy Levin2, Susan Macwana1, Wade DeJager1, Rebecka Bourn3, Swapan Nath3, Melissa Munroe4, Teresa Aberle1, Patrick Gaffney5, Joan Merrill3, Judith James6 and Joel Guthridge1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2OU Medical Center, Oklahoma City, 3Oklahoma Medical Research Foundation, Oklahoma City, 4Oklahoma Medical Research Foundation/Progentec Diagnostics, Inc., Oklahoma City, OK, 5Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK

    Background/Purpose: Patients with incomplete lupus erythematosus (ILE) have features of lupus, but have insufficient criteria for SLE classification. Some ILE patients transition to classified SLE,…
  • Abstract Number: 1305 • ACR Convergence 2020

    Is the Occurrence of Acute Anterior Uveitis Linked Primarily to Ankylosing Spondylitis (AS) or to HLA-B27? Results of a 35-Year Follow-Up Family Study of a Swiss Cohort of Patients with AS

    Sjef van der Linden1, Peter Villiger2, Zhixiu Li3, Matthew Brown4, Heinz Baumberger5, Hermine Zandwijk6 and Muhammad Khan7, 1Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, 2Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, 3Queensland 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, 4Guy'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, 5Retired, Flims, Tajikistan, 6Retired, Mortroux, Belgium, 7Case Western Reserve University, Cleveland OH, Westlake, OH

    Background/Purpose: Approximately 30% of HLA-B27(+) patients with ankylosing spondylitis (AS) have one or more episodes of acute anterior uveitis (AAU), a condition that is also…
  • Abstract Number: 0372 • ACR Convergence 2020

    Tumor Necrosis Factor-α Receptor 2 Polymorphisms and Response to TNF Inhibitor Therapy in Patients with Psoriatic Arthritis

    Sarah Rasheed1, MacKenzie Dunlap1, Jennifer Harvey1, Connery Brennan1, Yuxuan Jin2, Unnikrishnan Chandrasekharan3 and M. Elaine Husni2, 1Cleveland Clinic Foundation, Cleveland, 2Cleveland Clinic, Cleveland, OH, 3Cleveland Clinic Foundation, Cleveland, OH

    Background/Purpose: Tumor necrosis factor inhibitors (TNFi) have significantly improved the prognosis of patients with psoriatic arthritis (PsA); however, approximately 40% of patients do not achieve…
  • Abstract Number: 1667 • ACR Convergence 2020

    Development of Autoimmune Diseases and HLA Associations in Children with Neonatal Lupus and Their Unaffected Siblings

    Amit Saxena1, Aaron Garza Romero2, Daniel Gratch3, Peter Izmirly4, Hannah Ainsworth5, Miranda Marion5, Carl Langefeld6, Robert Clancy7 and Jill Buyon8, 1NYU School of Medicine, New York, 2Gonzaba Medical Group, San Antonio, 3NYU Langone Health, New York, 4Department of Medicine, New York University School of Medicine, New York, NY, 5Wake Forest School of Medicine, Winston-Salem, 6Wake Forest School of Medicine, Winston Salem, NC, 7New York University School of Medicine, New York, NY, 8Department of Medicine, NYU School of Medicine, New York, NY

    Background/Purpose: Neonatal Lupus (NL) is a model of passively acquired autoimmunity conferred by exposure to maternal anti-Ro antibodies with major manifestations being congenital heart block…
  • Abstract Number: 0426 • ACR Convergence 2020

    T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)

    Emily Rominger1, Sufia Bakshi2, Emily Rose3, Marcela Ferrada3, Peter C. Grayson4, Robert Colbert5 and Keith Sikora6, 1Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, 2National Institutes of Health, Bethesda, MD, 3Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 4Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, 5Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, 6National Institutes of Health Clinical Center, Bethesda, MD

    Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…
  • Abstract Number: 1669 • ACR Convergence 2020

    Genetics of Age at Diagnosis in Systemic Lupus Erythematosus

    Raffaella Carlomagno1, Fangming Liao2, JingJing Cao2, Dafna Gladman3, Marisa Klein-Gitelman4, Andrea Knight5, Deborah Levy1, Karen Onel6, Andrew Paterson2, Christine Peschken7, Janet Pope8, Zahi Touma9, Murray Urowitz10, Declan Webber1, Joan Wither11, Earl D. Silverman12 and Linda Hiraki13, 1Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 2Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, 3Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, 4Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, 5Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 6Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, 7Departments of Medicine and Community Health Sciences, University of Manitoba, Winnipeg, MB, Canada, 8Department of Medicine, University of Western Ontario, St. Joseph's Health Centre, London, ON, Canada, 9University of Toronto, Toronto, ON, Canada, 10University Health Network, University of Toronto, Toronto, ON, Canada, 11University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, 12Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, 13Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada

    Background/Purpose: Genome wide association studies (GWAS) have identified >90 SNPs associated with systemic lupus erythematosus (SLE) risk. However, there may be additional loci impacting the…
  • Abstract Number: 0471 • ACR Convergence 2020

    Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients

    Adriana de Jesus1, Sofia Torreggiani2, Bin Lin2, Jacob Mitchell2, Eric Karlins3, Andrew Oler3, Sara Alehashemi4, Dana Kahle5, Katelin R. Honer2, Gema Souto Adeva2, Eric Hanson6, Gina Montealegre Sanchez7, Amer Khojah8, Timothy Moran9, Eveline Wu9, Chris Scott10, Timothy Ronan Leahy11, Emma Jane MacDermott11, Orla Killeen12, Thaschawee Arkachaisri13, Zoran Gucev14, Kathryn Phillippi15, Vafa Mammadova16, Gulnara Nasrullayeva16 and Raphaela Goldbach-Mansky17, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 3Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, 5Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 6Indiana University School of Medicine, Indianapolis, IN, 7NIAID/NIH, Rockville, MD, 8Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 9UNC Chapel Hill, Chapel Hill, NC, 10University of Cape Town, Cape Town, South Africa, 11Our Lady's Children's Hospital, Dublin, Ireland, 12National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, 13Duke-NUS Medical School, Singapore, Singapore, 14University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 15Akron Children’s Hospital, Akron, OH, 16Azerbaijan Medical University, Baku, Azerbaijan, 17Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
  • Abstract Number: 1671 • ACR Convergence 2020

    Identifying Rare Genetic Variants in Childhood-onset Monogenic Systemic Lupus Erythematosus

    Melissa Misztal1, Fangming Liao2, Sergey Naumenko3, Andrea Knight4, Daniela Dominguez5, JingJing Cao2, Declan Webber6, Bhooma Thiruvahindrapuram7, Deborah Levy6, Andrew Paterson2, Earl D. Silverman8 and Linda Hiraki9, 1Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Oakville, ON, Canada, 2Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, 3The Centre for Computational Medicine, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, 4Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 5Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, 6Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 7The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, 8Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, 9Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada

    Background/Purpose: Among children diagnosed with systemic lupus erythematosus (SLE), there exists monogenic forms of SLE, where rare variants in a single gene lead to disease.…
  • Abstract Number: 0494 • ACR Convergence 2020

    Genetic-epigenetic Interaction and the Relationship Between DNA Methylation Patterns and Disease Activity in a Longitudinal Cohort of Lupus Patients

    Patrick Coit1, Lourdes Ortiz-Fernandez2, Emily Lewis3, W. Joseph McCune3, Kathleen Maksimowicz-McKinnon4 and Amr Sawalha2, 1University of Pittsburgh and University of Michigan, Pittsburgh, PA, 2University of Pittsburgh, Pittsburgh, PA, 3University of Michigan, Ann Arbor, MI, 4Henry Ford Hospital, Detroit

    Background/Purpose: Genetic factors and epigenetic dysregulation are implicated in the pathogenesis of lupus. We performed a longitudinal analysis of DNA methylation in lupus patients for…
  • Abstract Number: 1677 • ACR Convergence 2020

    Schizophrenia Genetics and Neuropsychiatric Features in Childhood-Onset Systemic Lupus Erythematosus

    Ana C. Ulloa Baez1, Fangming Liao2, Raffaella Carlomagno3, Talia Diaz3, Daniela Dominguez4, Deborah Levy3, Lawrence Ng5, Earl D. Silverman6, Andrea Knight7 and Linda Hiraki8, 1Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, 2Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, 3Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 4Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, 5Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, 6Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, 7Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, 8Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada

    Background/Purpose: Prior studies indicate that schizophrenia and systemic lupus erythematosus (SLE) share genetic risk loci. Despite overlapping phenotypic features such as psychosis, little is known…
  • Abstract Number: 0658 • ACR Convergence 2020

    Identification of Two Novel Dysfunctional Variants in a Physiologically Important Urate Transporter ABCG2 in Paediatric-onset Familial Hyperuricemia and Gout Patients in Three Generations

    Blanka Stiburkova1, Yu Toyoda2, Katerina Pavelcova1, Jana Bohata1, Pavel Ješina3, Yu Kubota2, Tappei Takada2 and Hiroshi Suzuki2, 1Institute of Rheumatology, Prague, Czech Republic, 2Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan, Tokyo, Japan, 3Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

    Background/Purpose: ABCG2 is a high-capacity urate transporter gene. Common dysfunctional variants of ABCG2 that result in decreased urate excretion in humans are major causes of…
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