Abstracts tagged "Genetic Biomarkers"

Abstract Number: 737 • 2019 ACR/ARP Annual Meeting
The MUC5B Promoter Variant Does Not Predict Outcomes in Systemic Sclerosis-related Interstitial Lung Disease
Elizabeth Volkmann¹, Donald Tashkin ², Michael Roth ³, Ning Li ², Grace Kim ², Jonathan Goldin ², Maureen Mayes ⁴, Julio Charles ⁵, Philip Clements ², Daniel Furst ⁶, Dinesh Khanna ⁷, Robert Elashoff ² and Shervin Assassi ⁴, ¹University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, ²University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, ³University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, CA, ⁴Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, Texas, USA, Houston, TX, ⁵University of Texas, Houston, Houston, ⁶University of California, Los Angeles, CA, ⁷Department of Medicine, University of Michigan, Ann Arbor, Michigan, USA, Ann Arbor
Background/Purpose: Interstitial lung disease (ILD) affects the majority of patients with systemic sclerosis (SSc). The disease course of ILD varies among SSc patients and no…
Abstract Number: 1929 • 2019 ACR/ARP Annual Meeting
Identification and Validation of Transcriptional Genes Associated with Osteoporotic Vertebral Fractures by Microarray Study, in Community Elderly Women
Levi Jales Neto¹, Zofia Wicik ², Georgea Torres ¹, Liliam Takayama ¹, Neusa Lopes ¹, alexandre Pereira ¹ and Rosa Pereira ³, ¹University of Sao Paulo, Sao Paulo, Brazil, ²University of Sao Paulo, São Paulo, Brazil, ³Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Sao Paulo, Brazil
Background/Purpose: The pathogenesis of osteoporosis, a common disease with high morbidity1, comprises genetic and environmental factors2. Recent studies demonstrated that blood samples are a source…
Abstract Number: 132 • 2019 ACR/ARP Annual Meeting
Anti-phosphatidylserine/prothrombin Antibodies Confer a Distinctive Molecular Profile in Primary Antiphospholipid Syndrome Patients
Chary Lopez-Pedrera¹, Mª Ángeles Aguirre-Zamorano ², Laura Pérez-Sanchez ³, Alejandra Patiño-Trives ¹, Maria Luque-Tevar ¹, Alejandro Ibañez-Costa ¹, Ivan Arias de la Rosa ⁴, Maria del Carmen Abalos-Aguilera ¹, Lourdes Alacaide-Ruggiero ⁵, Rafaela Ortega ¹, Nuria Barbarroja ⁶, Eduardo Collantes-Estevez ⁴, Massimo Radin ⁷, Irene Cecchi ⁷, Savino Sciascia ⁸ and Carlos Perez-Sanchez ⁹, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ³MIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ⁴University of Cordoba/IMIBIC/Reina Sofia Hospital, Cordoba, Spain, ⁵University of Cordoba, Cordoba, Spain, ⁶University of Cordoba/IMIBIC/Reina Sofia Hospital and CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Cordoba, Spain, ⁷University of Turin, Turin, Italy, ⁸Center of Research of Immunopathology and Rare Diseases- Coordinating Center of Piemonte and Valle d’Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, University of Turin, Torino, Italy, ⁹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, Cordoba, Spain
Background/Purpose: The clinical significance of non-canonical anti-phosphatidylserine/prothrombin (aPS/PT) antibodies in antiphospholipid syndrome (APS) is still controversial. This study assessed the prevalence of aPS/PT antibodies, their association with…
Abstract Number: 896 • 2018 ACR/ARHP Annual Meeting
Pharmacogenomics Study of Predicting Response of TNF Blocker and Medical Image Progression in Chinese Han Ankylosing Spondylitis Population
Jing Liu¹, Weilin Pu¹, Qi Zhu², He Fan¹, Wei Wan³, Hejian Zou⁴, Xiaodong Zhou⁵, John D. Reveille⁶, Dongyi He² and Jiucun Wang¹, ¹State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China, ²Institute of Arthritis Research, Shanghai Academy of Chinese Medical Sciences, Guanghua Integrative Medicine Hospital, Shanghai, China, ³Division of Rheumatology, Changhai Hospital, Shanghai, China, ⁴Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, China, ⁵Internal Medicine-Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, ⁶McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: TNF blockers, have been widely used in immune-mediated diseases and many genetic variations predicting treatment response have been described. We applied previously published genetic…
Abstract Number: 917 • 2018 ACR/ARHP Annual Meeting
Type 1 Interferon Levels Correlates with Age of Diagnosis and Ethnicity in Systemic Lupus Erythematous
Majid Abedi¹, Lilian Borisov², Allison Doyle¹, Francisco Flores², June Fujimoto², Aviva Jacobs¹, Pramod Naranatt¹, Liuliu Pan², William Ricketts³, Jacob Spangler¹, Kristen Warren² and Robert Terbrueggen², ¹DxTerity, Rancho Domiquez, CA, ²DxTerity, Rancho Dominguez, CA, ³Clinical Operations, DxTerity, Rancho Domiquez, CA
Background/Purpose: Low cost, patient-administered, “from home” genomic tests for monitoring disease activity and therapy response could revolutionize treatment and management of Systemic Lupus Erythematous (SLE)…
Abstract Number: 1135 • 2018 ACR/ARHP Annual Meeting
Genome-Wide Meta-Analysis Identified Two Novel Variants Associated with Hallux Valgus
Liubov Arbeeva¹, Braxton Mitchell², Rebecca D. Jackson³, Michelle S. Yau⁴, Kathleen Ryan⁵, Yvonne M. Golightly⁶, Marian T. Hannan⁷, Amanda Nelson⁸, Joanne M. Jordan⁹ and Marc C. Hochberg², ¹TARC, University of North Carolina at Chapel Hill, Chapel Hill, NC, ²School of Medicine, University of Maryland, Baltimore, MD, ³Ohio State University, Columbus, OH, ⁴Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, ⁵University of Maryland, Baltimore, MD, ⁶Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, ⁷Institute for Aging Research, Hebrew SeniorLife & Harvard Medical School, Boston, MA, ⁸UNC School of Medicine, Chapel Hill, NC, ⁹Thurston Arthritis Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC
Background/Purpose: Hallux valgus (HV) is a common foot disorder that is highly heritable. A genome-wide association study (GWAS) conducted in 4,409 Caucasians from the Framingham…
Abstract Number: 1136 • 2018 ACR/ARHP Annual Meeting
Association of Mitochondrial DNA Haplotypes with Symptomatic Hand and Thumb Based Osteoarthritis and Hand OA Progression
Charles Eaton¹, Mary Roberts², Jeffrey B. Driban³, Ida Kristin Haugen⁴, Lena Franziska Schaefer⁵, Bing Lu⁶, Rebecca D. Jackson⁷, Marc C. Hochberg⁸, C. Kent Kwoh⁹, Francisco J Blanco¹⁰ and Timothy E. McAlindon¹¹, ¹Family Medicine and Epidemiology, Warren Alpert Medical School, School of Public Health, Brown University, Providence, RI, ²Center for Primary Care and Prevention, Memorial Hospital of Rhode Island, Pawtucket, RI, ³Rheumatology, Tufts Medical Center, BOSTON, MA, ⁴Diakonhjemmet Hospital, Oslo, Norway, ⁵Radiology, Brigham & Women's Hospital/ Harvard Medical School, Boston, MA, ⁶Division of Rheumatology, Immunology and Allergy, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, ⁷Ohio State University, Columbus, OH, ⁸School of Medicine, University of Maryland, Baltimore, MD, ⁹Medicine, Division of Rheumatology, University of Arizona School of Medicine, University of Arizona Arthritis Center, Tucson, AZ, ¹⁰Rheumatology Division, ProteoRed, PRB2-ISCIII. INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ¹¹Division of Rheumatology, Tufts Medical Center, Boston, MA
Background/Purpose: Hand osteoarthritis (OA) can be a painful, disabling condition, with an increased prevalence in women, the elderly, and has a strong genetic component (hereditability…
Abstract Number: 1292 • 2018 ACR/ARHP Annual Meeting
HLA-B*58:01 Genotype and the Risk of Allopurinol-Associated Severe Cutaneous Adverse Reactions in a Predominately Black or African American Population with Advanced Chronic Kidney Disease
Sarah Ford¹, Pamela Kimball¹, Gaurav Gupta¹ and Nehal Shah², ¹Virginia Commonwealth University, Richmond, VA, ²Medicine/Rheumatology, Virginia Commonwealth University, Richmond, VA
Background/Purpose: Allopurinol is the first line urate lowering drug used for treatment of gout. Its most feared side effect includes development of hypersensitivity drug reactions…
Abstract Number: 1975 • 2018 ACR/ARHP Annual Meeting
Behcet’s Disease Lies in the “B” Holder. New Associations in Disease Susceptibility and Manifestations
Mohanad Elfishawi^1,2, Sally Elfishawi³, Ghada Mossallam³, Paul Norman⁴, Jill Hollenbach⁵, Maneesh Misra⁵, Gonzalo Montero Martin⁶, Helma de Bruin⁷, Leos Van de Pasch⁷, Erik Rozemuller⁷, Marcelo Fernandiz-Vina⁶, Adriana Abrudescu⁸ and Khaled Zaky⁹, ¹Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, NY, ²Rheumatology, Kasr Alainy Hospital, Cairo University, Cairo, Egypt, ³Clinical pathology and Immunology laboatory, National Cancer Institute, Cairo University, Cairo, Egypt, ⁴Division of Personalized Medicine and Department of Immunology, University of Colorado School of Medicine, Denver, CO, ⁵Department of Neurology, University of California San Francisco, San Francisco, CA, ⁶Department of Pathology, Stanford University,School of medicine, Palo Alto, CA, ⁷GenDx, Utrecht, Netherlands, ⁸Internal Medicine and Rheumatology, Icahn School of Medicine at Mount Sinai, Queens Hospital center, NYC, NY, ⁹Rheumatology and Rehabilitation, Faculty of medicine, Al-Azhar University, Cairo, Egypt
Background/Purpose: Behçet’s disease is a multisystem disease affecting young adults with variable vessel vasculitis as its underlying pathology. Previous studies in Behçet’s disease linked it…
Abstract Number: 2119 • 2018 ACR/ARHP Annual Meeting
Association of the Variant Form of rs17408553 at Human Leukocyte Antigen-C Supports Evidence That Hypo-Responsive Natural Killer Cells Adversely Influence the Course of Nephritis
Robert M. Clancy¹, H. Michael Belmont¹, Peter M. Izmirly², Nicole Bornkamp³, Sarah Miller⁴, Matthew Poulin⁴, Liying Yan⁴, Jill P. Buyon¹ and Ellen M. Ginzler⁵, ¹NYU School of Medicine, New York, NY, ²Rheumatology, NYU School of Medicine, New York, NY, ³Medicine, NYU School of Medicine, New York, NY, ⁴EpigenDx, Hopkinton, MA, ⁵Rheumatology, SUNY Downstate Medical Center, Brooklyn, NY
Background/Purpose: In subjects with lupus nephritis (LN), tissue injury due to local immune activation involving persistently activated macrophages in the renal parenchyma is limited by…
Abstract Number: 2983 • 2018 ACR/ARHP Annual Meeting
The Changing Faces of Rheumatoid Arthritis Patients at Presentation: A 20-Year Study
Nathalie Carrier¹, Sophie Roux², Ariel Masetto², Artur J deBrum Fernandes³, Patrick Liang⁴, Meryem Maoui⁵ and Gilles Boire⁴, ¹Centre intégré universitaire de santé et de services sociaux de l'Estrie -Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada, ²Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ³Medicine, Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ⁴Rheumatology Division, Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ⁵Bristol-Myers Squibb Canada., St-Laurent, QC, Canada
Background/Purpose: To analyze the evolution of baseline demographic, clinical, serological and genetic characteristics of patients with incident RA over 20 years. Methods: Since July 1998,…
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…

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