ACR Meeting Abstracts

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Abstracts tagged "Genetic Biomarkers"

  • 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: 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: 1975 • 2018 ACR/ARHP Annual Meeting

    Behcet’s Disease Lies in the “B” Holder. New Associations in Disease Susceptibility and Manifestations

    Mohanad Elfishawi1,2, 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: 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: 178 • 2017 ACR/ARHP Annual Meeting

    Genome-Wide DNA Methylation Study in Lupus in an Admixed Mexican Population

    Maria Teruel1, Patrick Coit2, Mikhail Dozmorov3, Mario Cardiel4, Ignacio Garcia-De La Torre5, Marco A Maradiaga-Ceceña Sr.6, José Francisco Moctezuma7, Maria Teresa Tusié-Luna8, Marta Alarcón-Riquelme9,10 and Amr H Sawalha2, 1GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain, 2Division of Rheumatology, University of Michigan, Ann Arbor, MI, 3Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, 4Centro de Investigación Clínica de Morelia SC, Morelia, Mexico, 5Immunology & Rheumatology, Centro de Est. de Invest. Bas. y Clin., S.C., Guadalajara, JAL, Mexico, 6Hospital General de Culiacán, Culiacán, Mexico, 7Servicio de Reumatología, Hospital General de Mexico, Ciudad de Mexico, Mexico, 8Medicina Genómica y Toxicología Ambiental, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Mexico, 9Uppsala University, Uppsala, Sweden, 10Centro de Genomica e Investigación Oncológica, Pfizer-University of Granada-Junta de Andalucía, Granada, Spain

    Background/Purpose: Our knowledge about the pivotal role DNA methylation plays in the pathogenesis of SLE has significantly increased in the last few years. However, we…
  • 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…
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