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…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].