Abstracts tagged "Genetic Biomarkers"

Abstract Number: 1016 • 2017 ACR/ARHP Annual Meeting
The Genetic Biomarkers to Predicting Response of TNF Inhibitors Treatment in Rheumatoid Arthritis
So-Young Bang¹, Youngho Park², Kwangwoo Kim³, Young Bin Joo⁴, Soo-Kyung Cho⁵, Chan-Bum Choi¹, Yoon-Kyoung Sung², Tae-Hwan Kim², Jae-Bum Jun¹, Dae-Hyun Yoo¹, Hye-Soon Lee⁶ and Sang-Cheol Bae⁷, ¹Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ²Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ³4Department of Biology, Kyung Hee University, Seoul, Korea, Republic of (South), ⁴Internal Medicine, Department of Rheumatology, St. Vincent's Hospital, The Catholic University of Korea, Suwon, Gyeonggido, Korea, Republic of (South), ⁵Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ⁶Hanyang University Guri Hospital, Gyeonggi-do, Korea, Republic of (South), ⁷Department of Rhematology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South)
Background/Purpose: Although pharmacogenetic studies of TNF inhibitors (TNFi) response presented the estimates of high heritability, only few loci with suggestive weak association as biomarkers for…
Abstract Number: 1028 • 2017 ACR/ARHP Annual Meeting
Association of a Non-Synonymous, Loss-of-Function, Variant in NOD2 with Reduced Tissue Damage in ACPA +Ve RA
Ricardo Segurado¹, Denis Shields¹, Rachel Knevel², Annette H.M. van der Helm-van Mil³, Tom W.J. Huizinga⁴ and Anthony G. Wilson⁵, ¹University College Dublin, Dublin, Ireland, ²Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, ³Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ⁴Department of Rheumatology, LUMC, Leiden, Netherlands, Leiden, Netherlands, ⁵UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland
Background/Purpose: The functional capacity of individuals with rheumatoid arthritis (RA) is related to the severity of damage to bone and cartilage within joints. This is…
Abstract Number: 1142 • 2017 ACR/ARHP Annual Meeting
A Case Control Study of Anakinra Use for Acute Gout in a VA Patient Cohort Reveals Association with East Asian Descent, High Urate Burden, and Increased Co-Morbidities and All-Cause Mortality
Ena Sharma¹ and Robert Terkeltaub², ¹Rheumatology, University Of California San Diego, San Diego, CA, ²Rheumatology, VA San Diego Healthcare System, San Diego, CA
Background/Purpose: Effectiveness of the IL-1 receptor antagonist anakinra, in resolving flares of acute gout, has been reported in several case series. Here, studying a VA…
Abstract Number: 1638 • 2017 ACR/ARHP Annual Meeting
High Genetic Risk Score Is Associated with Increased Organ Damage in SLE
Sarah Reid¹, Andrei Alexsson¹, Martina Frodlund², Johanna K Sandling¹, Elisabet Svenungsson³, Andreas Jönsen⁴, Christine Bengtsson⁵, Iva Gunnarsson³, Anders A. Bengtsson⁴, Solbritt Rantapaa-Dahlqvist⁵, Maija-Leena Eloranta¹, Ann-Christine Syvänen⁶, Christopher Sjöwall², Lars Rönnblom¹ and Dag Leonard¹, ¹Rheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden, Uppsala, Sweden, ²Department of Clinical and Experimental Medicine, Linköping University, Sweden, Linköping, Sweden, ³Rheumatology Unit, Department of Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden, ⁴Lund University, Department of Clinical Sciences, Rheumatology, Lund, Sweden, ⁵Dept of Public Health and Clinical Medicine/Rheumatology, Umeå University, Sweden, Umeå, Sweden, ⁶Uppsala University, Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala, Sweden
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, autoimmune disease with a complex genetic etiology. Over 80 risk genes for SLE have been identified and…
Abstract Number: 1971 • 2017 ACR/ARHP Annual Meeting
Association between Genetic Variants and the Presence of Rheumatoid Arthritis-Related Autoimmunity and Progression to Classified Rheumatoid Arthritis in an at-Risk Population
Rachael Sawaya¹, Elizabeth A. Bemis¹, Ryan W. Gan², Jill M. Norris³, Jeffrey A. Sparks⁴, Elizabeth Karlson⁵, M. Kristen Demoruelle⁶, Kevin D. Deane⁷, V. Michael Holers⁸, Marie L. Feser⁷, Laurie Moss⁷, Jane H. Buckner⁹, Richard M. Keating¹⁰, Peter Gregersen¹¹, Michael Weisman¹², Ted R. Mikuls¹³ and James R. O'Dell¹⁴, ¹Epidemiology, Colorado School of Public Health, Aurora, CO, ²Colorado School of Public Health, University of Colorado Denver, Aurora, CO, ³Department of Epidemiology, Colorado School of Public Health, Aurora, CO, ⁴Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶1775 Aurora Ct, 1775 Aurora Ct, Aurora, CO, ⁷Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ⁸Rheumatology Division, University of Colorado School of Medicine, Aurora, CO, ⁹Benaroya Research Institute at Virginia Mason, Seattle, WA, ¹⁰Division of Rheumatology, Scripps Clinic, La Jolla, CA, ¹¹The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, ¹²Cedars-Sinai Medical Center Division of Rheumatology, Los Angeles, CA, ¹³Internal Medicine, Division of Rheumatology, University of Nebraska Medical Center, Omaha, NE, ¹⁴Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of RA-related autoantibodies prior to the development of clinical disease. While HLA-shared epitope…
Abstract Number: 2731 • 2017 ACR/ARHP Annual Meeting
The Utility of Unbiased Metagenomic Next Generation Sequencing in the Management of Patients with CNS Vasculitis
Hiromichi Tamaki¹, Michael R Wilson², Leonard H. Calabrese³, Joseph L. DeRisi⁴ and Rula A Hajj-Ali⁵, ¹Department of Rheumatic and Immunologic Diseases, Cleveland Clinic Foundation, Cleveland, OH, ²Department of Neurology, UCSF, San Francisco, CA, ³Rheumatic & Immunologic Disease, Cleveland Clinic Foundation, Cleveland, OH, ⁴Biochemistry and Biophysics, UCSF, San Francisco, CA, ⁵Rheumatology, Cleveland Clinic Foundation, Cleveland, OH
Background/Purpose: In the clinical approach to CNS vasculitis, exclusion of infection is of major concern as some microbes can cause vasculitis, and infections can complicate…
Abstract Number: 34 • 2017 Pediatric Rheumatology Symposium
The SLCO1B1 *14 Allele is Associated with Poor Response to Subcutaneous Methotrexate in Patients with Juvenile Idiopathic Arthritis
Halima Moncrieffe¹, Laura B Ramsey², Marc Sudman³, Beth Gottlieb⁴, Carl D Langefeld⁵, Daniel Lovell⁶, Susan D Thompson⁷ and JIA Gene Expression Study Consortium, ¹Center for Autoimmune Genomics and Etiology and Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Division of Research in Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Pediatric Rheumatology, Cohen Children's Medical Center of New York, New Hyde Park, NY, ⁵Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC, ⁶Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Center for Autoimmune Disease Genomics and Etiology and Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Variants in the SLCO1B1 gene, encoding a hepatic methotrexate (MTX) transporter, affect clearance of high-dose MTX in leukemia patients. We aimed to assess the…
Abstract Number: 804 • 2016 ACR/ARHP Annual Meeting
Combined-Phenotype Meta-GWAS in Systemic Sclerosis and Rheumatoid Arthritis Identifies IRF4 As a New Common Susceptibility Locus
Elena Lopez-Isac¹, Shervin Assassi², Carmen Pilar Simeón³, Patricia Carreira⁴, Norberto Ortego Centeno⁵, Benjamin Fernandez Gutierrez⁶, Alejandro Balsa⁷, Miguel Angel González-Gay⁸, Lorenzo Beretta⁹, Claudio Lunardi¹⁰, Gianluca Moroncini¹¹, Torsten Witte¹², Nicolas Hunzelmann¹³, Joerg HW Distler¹⁴, Gabriela Riekemasten¹⁵, Annette HM van der Helm-van Mil¹⁶, Jeska K. de Vries-Bouwstra¹⁷, Cesar Magro-Checa¹⁸, Alexandre E. Voskuyl¹⁹, Madelon C. Vonk²⁰, Øyvind Molberg²¹, Tony Merriman²², Roger Hesselstrand²³, Annika Nordin²⁴, Leonid Padyukov²⁵, Ariane L. Herrick²⁶, Stephen Eyre²⁷, Christopher Denton²⁸, Carmen Fonseca²⁹, Timothy R.D.J. Radstake³⁰, Jane Worthington³¹, Maureen D Mayes² and Javier Martín¹, ¹Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, ²Department of Internal Medicine - Rheumatology, University of Texas-McGovern Medical School, Houston, TX, ³Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain, ⁴Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁵Medicine Department, Hospital Universitario San Cecilio, Granada, Spain, ⁶Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ⁷Department of Rheumatology, Hospital La Paz, Madrid, Spain, ⁸School of Medicine, University of Cantabria, Santander, Spain, ⁹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹⁰Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹¹Dipartimento di Scienze mediche e Chirurgiche, Università politecnica delle Marche and Ospedali Riuniti, Ancona, Italy, ¹²Department of Clinical Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ¹³Department of Dermatology, University of Cologne, Cologne, Germany, ¹⁴Department of Internal Medicine 3 – Rheumatology and Immunology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany, ¹⁵Department of Rheumatology, University of Lübeck, Luebeck, Germany, ¹⁶Rheumatology, Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ¹⁷Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ¹⁸Department of Rheumatology, Leiden University Medical Center, Leiden, Spain, ¹⁹Rheumatology, Amsterdam Rheumatology and immunology Center, Location VU University Medical Center, Amsterdam, Netherlands, ²⁰Department of the Rheumatic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ²¹Rheumatology, Oslo University Hospital, Oslo, Norway, ²²Department of Biochemistry, University of Otago, Otago, New Zealand, ²³Department of Rheumatology, Lund University, Lund, Sweden, ²⁴Department of Rheumatology, Karolinska Institute, Stockholm, Sweden, ²⁵Unit of Rheumatology, Department of Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden, ²⁶Centre for Musculoskeletal Research, University of Manchester, MAHSC, Salford Royal Hospital, Manchester, United Kingdom, ²⁷The University of Manchester, Manchester, United Kingdom, ²⁸Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, ²⁹Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ³⁰Laboratory of Translational Immunology, UMC Utrecht, Utrecht, Netherlands, ³¹Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom
Background/Purpose: Genome-wide association studies (GWASs) have revolutionized our understanding of the genetic component of complex autoimmune diseases (ADs) by the identification of thousands of susceptibility…
Abstract Number: 1821 • 2016 ACR/ARHP Annual Meeting
Demethylated CD4+CD28+KIR+CD11ahi T Cells Are Characterized By a Pro-Inflammatory Transcriptome and Interact with Genetic Risk to Predict Disease Activity in Lupus
Paul Renauer¹, Patrick Coit¹, Faith Strickland², Elizabeth Gensterblum¹, Mikhail Ognenovski¹, Bruce Richardson³ and Amr Sawalha⁴, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Rheumatology, University of Michigan, Ann Arbor, MI, ³Rheumatology, University of Michigan and the Ann Arbor VA, Ann Arbor, MI, ⁴Internal Medicine-Rheumatology, University of Michigan, Ann Arbor, MI
Background/Purpose: T cell DNA methylation defects play an important role in the pathogenesis of systemic lupus erythematosus. A CD4+CD28+ T cell subset characterized by overexpression…
Abstract Number: 1841 • 2016 ACR/ARHP Annual Meeting
Dysregulation of the Splicing Machinery Components in Leukocytes from Patients with Systemic Lupus Erythematosus: Influence on Autoimmune and Atherothrombotic Mechanisms
Chary Lopez-Pedrera¹, Sergio Pedraza-Arévalo², Mercedes del Río-Moreno², Maria Ángeles Aguirre Zamorano¹, Patricia Ruiz-Limon³, Nuria Barbarroja¹, Yolanda Jiménez-Gómez¹, Ivan Arias de la Rosa³, Eduardo Collantes-Estévez¹, Pedro Segui¹, Maria Jose Cuadrado⁴, Justo P Castaño², Raul M Luque² and Carlos Perez-Sanchez¹, ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²Department of Cell Biology, Physiology and Immunology. University of Cordoba, Hospital Universitario Reina Sofia (HURS), Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), CIBERobn, and ceiA3, Córdoba, Spain, ³Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁴St Thomas Hospital, Lupus Research Unit, London, United Kingdom
Background/Purpose: The aim of this study was to evaluate whether alterations in the splicing-machinery could influence the development and activity of the disease and the…
Abstract Number: 2271 • 2016 ACR/ARHP Annual Meeting
Mutation in Osteoprotegerin Gene: Early-Onset Osteoarthritis and Chondrocalcinosis in a US Family of Italian/German Ancestry
Urooj Qazi¹, Charlene J. Williams², Mark L. Bernstein³, Aaron Charniak⁴, Amaryllis Ortiz², Ann K. Rosenthal⁵, Lucien Cardinal¹ and Alan T. Kaell¹, ¹Internal Medicine, SUNY Stony Brook Medicine-John T Mather Memorial Hospital, Port Jefferson, NY, ²Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ, ³Rheumatology, SUNY Stony Brook Medicine-John T Mather Memorial Hospital, Stony Brook, NY, ⁴SUNY Stony Brook Medicine-John T Mather Memorial Hospital, Port Jefferson, NY, ⁵Division of Rheumatology, Medical College of WI, Milwaukee, WI
Background/Purpose: Chondrocalcinosis is characterized by calcium pyrophosphate dihydrate (CPPD) deposition in articular cartilage. It can occur as a rare autosomal dominant disorder with florid early-onset…
Abstract Number: 2415 • 2016 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (secHLH)
Chiara Passarelli¹, Manuela Pardeo², Elisa Pisaneschi¹, Antonio Novelli¹, Fabrizio De Benedetti² and Claudia Bracaglia², ¹Ospedale Pediatrico Bambino Gesù IRCCS, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Rome, Italy, ²Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy
Background/Purpose: Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease, particularly of systemic JIA (sJIA). It is currently classified among the secondary forms…
Abstract Number: 2726 • 2016 ACR/ARHP Annual Meeting
Prevalence of HLA-B27 in the Normal Population and Patients with Axial Spondyloarthritis in Saudi Arabia
Fatima alduraibi¹, Mohammed Omair^2,3, Moheeb Al Awwami⁴, Sultana Abdulaziz⁵, Waleed Husain⁶, Maha El Dessougi⁷, Mahmoud Aljurf⁸, Hind Alhumaidan⁹, Hana Al Khabbaz¹⁰, Ibrahim Alahmadi¹¹ and Salman Al Saleh¹², ¹Department of Internal Medicine, Section of Rheumatology ,Department of Internal Medicine,King Faisal Specialsed Hospital, Saudi Arabia, Riyadh, Saudi Arabia, ²Rheumatology, King Khalid Hospital, Riyadh, ON, Saudi Arabia, ³Division of Rheumatology, Department of Medicine, King Saud University, Riyadh, Saudi Arabia, ⁴Histocompatibility and Immunogenetics Laboratory, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ⁵Dept of Medicine/Unit of Rheumatology, King Fahad Hospital, Jeddah, Saudi Arabia, ⁶Hera Hospital , Division of Rheumatology, Department of Medicine, Makkah, Saudi Arabia, ⁷Security Forces Hospital Division of Rheumatology, Department of Medicine, Riyadh, Saudi Arabia, ⁸Department of Adult Hematology/Oncology and Stem Cell Transplantation, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ⁹Blood Bank/Stem Cell/Cord Blood , Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ¹⁰Riyadh Colleges of Dentistry and Pharmacy, Riyadh, Saudi Arabia, ¹¹Organ Transplant Center, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ¹²King Faisal Specialsed Hospital, Riyadh, Saudi Arabia
Background/Purpose: The prevalence of HLA-B27 varies between different ethnicities. Its presence is associated with susceptibility to axial spondyloarthritis (axSpA). The aim of this study is…
Abstract Number: 2873 • 2016 ACR/ARHP Annual Meeting
B-Cell activating Factor Genetic Variants in Systemic Lupus Erythematosus and Lupus Related Atherosclerosis
Evangelos Theodorou¹, Adrianos Nezos², Pinelopi Kostantopoulou³, Maria Tektonidou⁴, Michael Koutsilieris⁵ and Clio P. Mavragani⁵, ¹Rheumatology, 251 Hellenic (Greek) Air Force Hospital, Athens, Greece, ²Physiology, Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece, ³Rheumatology Department, General Hospital of Athens "G.Gennimatas", Αthens, Greece, ⁴Laikon Hospital, Athens University Medical School, Athens, Greece, ⁵Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with an increased atherosclerotic risk compared to healthy population, partially explained by traditional cardiovascular…
Abstract Number: 3124 • 2016 ACR/ARHP Annual Meeting
Huntingtin Interacting Protein 1 (Hip1) Is a New Arthritis Severity Gene
Teresina Laragione¹, Percio Gulko¹ and Max Brenner², ¹Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY, ²Feinstein Institute for Medical Research, Manhasset, NY
Background/Purpose: Cia25/Pia42 is an arthritis severity and joint damage quantitative trait locus on rat chromosome 12 previously identified in an intercross between MHC identical but…

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