Abstracts tagged "genetics"

Abstract Number: 3161 • 2016 ACR/ARHP Annual Meeting
The Association Between HLA Genetic Susceptibility Markers and Sonographic Enthesitis in Psoriatic Arthritis
Ari Polachek¹, Richard J. Cook², Vinod Chandran¹, Fatima Abji¹, Dafna D Gladman³ and Lihi Eder⁴, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, ³University of Toronto, Toronto, ON, Canada, ⁴Rheumatology, University of Toronto, Women's College Hospital, Toronto, ON, Canada
Background/Purpose: Enthesitis is an important pathophysiologic component in psoriatic arthritis (PsA). Ultrasound is emerging as an optimal method to evaluate enthesitis. HLA genes are implicated…
Abstract Number: 57 • 2016 ACR/ARHP Annual Meeting
Genetic Polymorphism of IL-1RN Encoding the IL-1 Receptor Antagonist Predicts Radiographic Severity of Symptomatic Knee OA
Mukundan Attur¹, Sisi Ma², Jonathan Samuels³, Svetlana Krasnokutsky Samuels⁴, Hua Zhou², Jenny Bencardino⁵, Marc C. Hochberg⁶, Braxton Mitchell⁷, Virginia B. Kraus⁸, Joanne M. Jordan⁹ and Steven B. Abramson¹⁰, ¹Rheumatology Research, NYU - Hospital for Joint Diseases, New York, NY, ²Bioinformatics, New York University, New York, NY, ³Rheumatology, NYU - Hospital for Joint Diseases, New York, NY, ⁴Medicine/Rheumatology, NYU School of Medicine/NYU Hospital for Joint Diseases, New York, NY, ⁵Radiology, NYU Langone Medical Center, New York, NY, ⁶University of Maryland School of Medicine, Baltimore, MD, USA, Baltimore, MD, ⁷Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, ⁸Department of Medicine, Duke University Medical Center, Durham, NC, ⁹Thurston Arthritis Research Center, University of North CArolina at Chapel Hill, Chapel Hill, NC, ¹⁰Dept of Rheumatology/Medicine, Hosp for Joint Diseases/NYU, New York, NY
Background/Purpose: Growing numbers of studies show increased expression in Osteoarthritis (OA) of inflammatory cytokines, such as IL-1β and TNFα, in joint tissues and peripheral blood…
Abstract Number: 465 • 2016 ACR/ARHP Annual Meeting
Genetic and Metabolic Signatures of Purified Synovial Macrophage Subsets during an Acute Murine Model of Inflammatory Arthritis
Philip J. Homan¹, Harris R. Perlman² and Carla Cuda³, ¹Medicine-Rheumatology, Northwestern University, Chicago, IL, ²Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL, ³Northwestern University, Chicago, IL
Background/Purpose: Rheumatoid arthritis (RA) manifests in persistent synovial inflammation, cellular infiltration and pro-inflammatory cytokine production, and results in progressive joint destruction. Macrophages have been implicated in…
Abstract Number: 3162 • 2016 ACR/ARHP Annual Meeting
Symmetric and Asymmetric Sacroiliitis Are Associated with Different Major Histocompatibility Class I Alleles in Psoriatic Arthritis
Jon T. Giles¹, Muhammad Haroon², Deepak R. Jadon³, Raj Sengupta⁴, Alison L Nightingale⁵, Eleanor Korendowych³, Jing Bi⁶, Neil J. McHugh³, Oliver FitzGerald⁷ and Robert Winchester⁶, ¹Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ²Rheumatology, Kerry General Hospital, Co Kerry, Ireland, ³Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ⁴Rheumatology, Royal National Hospital for Rheumatic Diseases,, Bath, United Kingdom, ⁵Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁶Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ⁷St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland
Background/Purpose: HLA-B27 has been linked to sacroiliitis (SII) in psoriatic arthritis (PsA); however, the contribution to SII of other human leukocyte antigen (HLA) Class I…
Abstract Number: 488 • 2016 ACR/ARHP Annual Meeting
Exploring the Association Between Air Pollutant Exposure and Seropositivity in Rheumatoid Arthritis
Asha Mariam Alex^1,2, Gary A. Kunkel³, Jorge Flautero Arcos⁴, Richard Amdur⁵ and Gail S. Kerr⁶, ¹Rheumatology, Veterans Affairs Medical Center, Washington, DC, ²Rheumatology, Georgetown University Hospital, Washington, DC, ³Division of Rheumatology, George Wahlen VA Medical Center/University of Utah, Salt Lake City, UT, ⁴Rheumatology, Howard University Hospital, Washington, DC, ⁵Lead Biostatistician, Medical Faculty Associates Clinical Professor, Dept. of Surgery, George Washington University School of Medicine & Health Sciences, Washington, DC, ⁶Washington DC VAMC, Georgetown University Hospital, Howard University Hospital, Washington, DC
Background/Purpose: The etiology of rheumatoid arthritis (RA) is multi-factorial, with expression of HLA-DRB1 shared epitope (SE), smoking and socioeconomic status (SES) exerting influence. Prior studies…
Abstract Number: 985 • 2016 ACR/ARHP Annual Meeting
Effectiveness of a Web-Based Personalized Rheumatoid Arthritis Risk Tool with or without a Health Educator for Knowledge of RA Risk Factors
Maria G. Prado¹, Rachel Miller Kroouze¹, Zhi Yu¹, Maura D. Iversen^2,3,4, Nellie A. Triedman¹, Sarah S. Kalia⁵, Kevin D. Deane⁶, Karen H. Costenbader¹, Bing Lu¹, Robert C. Green⁵, Elizabeth W. Karlson¹ and Jeffrey A. Sparks⁷, ¹Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden, ³Physical Therapy, Movement and Rehabilitation Sciences, Northeastern University, Boston, MA, ⁴Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ⁷Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Much progress has been made in identifying risk factors for RA, but it is unclear whether individuals at risk for RA have knowledge of…
Abstract Number: 1211 • 2016 ACR/ARHP Annual Meeting
Allele-Dependent Binding of a Viral Protein to Autoimmune Disease-Associated Genetic Variants
Matthew T. Weirauch¹, Daniel Miller¹, Leah C. Kottyan², Ignacio Ibarra³, Sayeed Syed⁴, Xiaoting Chen¹, Erin Zoller¹, Arthur Lynch¹, Connor Schroeder¹, Josh Lee¹, Albert Magnussen¹, Ally Yang⁵, Timothy R. Hughes⁵, Joo-Seop Park¹, Charles Vinson⁴ and John B. Harley^6,7, ¹Cincinnati Childrens Hospital, Cincinnati, OH, ²Center for Autoimmune Genomics and Etiology, Cincinnati Childrens Hospital, Cincinnati, OH, ³EMBL, Heidelberg, Germany, ⁴NCI, Bethesda, MD, ⁵University of Toronto, Toronto, ON, Canada, ⁶US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁷Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Childrens Hospital, Cincinnati, OH
Methods: We tested the hypothesis that some autoimmune variants might act by altering the binding of the EBV-encoded transcription factor ZTA, consequently resulting in downstream…
Abstract Number: 1632 • 2015 ACR/ARHP Annual Meeting
Do RA Susceptibility Loci Predict Response to Methotrexate As First DMARD in Early RA?
Thomas Frisell¹, Saedis Saevarsdottir^2,3 and Johan Askling^1,4, ¹Clinical Epidemiology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden, ²Rheumatology Unit, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ³Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ⁴Rheumatology Unit, Karolinska University Hospital, Stockholm, Sweden
Background/Purpose: Improved means to predict which RA patients will respond to methotrexate monotherapy, the preferred first line therapy in early RA, would allow patients to…
Abstract Number: 1929 • 2015 ACR/ARHP Annual Meeting
Somatic Mutations in Clonally Expanded Cytotoxic Lymphocytes in Patients with Newly Diagnosed Rheumatoid Arthritis
Paula Savola¹, Tiina Kelkka¹, Hanna Rajala¹, Antti Kuuliala², Krista Kuuliala², Samuli Eldfors³, Pekka Ellonen³, Sonja Lagstrom³, Rajiv Kumar Khajuria¹, Taina Jaatinen⁴, Riitta Koivuniemi⁵, Heikki Repo², Janna Saarela³, Kimmo Porkka¹, Marjatta Leirisalo-Repo⁶ and Satu Mustjoki¹, ¹Department of Hematology, Hematology Research Unit Helsinki, University of Helsinki, Comprehensive Cancer Center, Helsinki University Hospital, Helsinki, Finland, ²Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Helsinki, Finland, ³Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, ⁴Clinical Laboratory, Finnish Red Cross Blood Service, Helsinki, Finland, ⁵Department of Medicine, Division of Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ⁶Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Background/Purpose: In rheumatoid arthritis (RA), the mechanisms initiating immune dysregulation leading to joint damage are incompletely understood. Previous studies show that large CD8+ T cell…
Abstract Number: 2101 • 2015 ACR/ARHP Annual Meeting
HLA Associations in Mothers of Children with Cardiac Manifestations of Neonatal Lupus
Hannah C. Ainsworth¹, Carl D. Langefeld¹, Miranda C. Marion², Nathalie Costedoat-Chalumeau³, Antonio Brucato⁴, Jill P. Buyon⁵ and Robert M. Clancy⁵, ¹Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ²Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University Health Sciences, Winston-Salem, NC, ³Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁴Internal Medicine, Hospital Papa Giovanni XXIII, Bergamo, Italy, ⁵Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY
Background/Purpose: Cardiac manifestations of neonatal lupus, comprising atrioventricular conduction defects and cardiomyopathy, occur in fetuses exposed to anti-Ro/SSA antibodies, and carry substantial mortality. There is…
Abstract Number: 2702 • 2015 ACR/ARHP Annual Meeting
Immunophenotyping of Rheumatoid Arthritis Reveals the Linkage Between HLA-DRB1 Genotype, CXCR4 Expressions on Memory CD4+ T Cells, and Disease Activity
Yasuo Nagafuchi¹, Hirofumi Shoda¹, Shuji Sumitomo¹, Shinichiro Nakachi¹, Rika Kato², Yumi Tsuchida², Haruka Tsuchiya², Keiichi Sakurai², Norio Hanata², Shoko Tateishi², Hiroko Kanda², Keishi Fujio¹ and Kazuhiko Yamamoto¹, ¹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Background/Purpose: The HLA-DRB1 is the strongest genetic risk factor for rheumatoid arthritis (RA). Although this fact suggests a pivotal role for adaptive immunity in RA,…
Abstract Number: 2818 • 2015 ACR/ARHP Annual Meeting
Associations of IL23R, BMP6 and PTGS1 Polymorphisms with Radiographic Severity of Ankylosing Spondylitis
Gulsen Ozen¹, Rabia Deniz², Fatih Eren³, Can Erzik³, Ali Ugur Unal¹, Sibel Z. Aydin⁴, Nevsun Inanc¹, Haner Direskeneli¹ and Pamir Atagunduz¹, ¹Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, ²Marmara University Faculty of Medicine, Istanbul, Turkey, ³Department of Medical Biology, Marmara University Faculty of Medicine, Istanbul, Turkey, ⁴Department of Rheumatology, Koc University Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Ankylosing spondylitis (AS) is an inflammatory disease affecting spine which may lead to new bone formation and disability. However, the radiographic severity of AS…
Abstract Number: 2828 • 2015 ACR/ARHP Annual Meeting
Profiling Immunogenic Bacteria within the Microbiota of ZAP-70 Mutant SKG Mice Associated with Spondyloarthritis and Ileitis Using IgA-SEQ
Linda Rehaume¹, Alicia Kang¹, Olga Zbarskaya¹, Jane Mullaney¹, Matthew Kim¹, Paraic O Cuiv¹, Nicola Angel², Philip Hugenholtz², Mark Morrison¹ and Ranjeny Thomas¹, ¹Translational Research Institute, The University of Queensland Diamantina Institute, Brisbane, Australia, ²Australian Centre for Ecogenomics, The University of Queensland, Brisbane, Australia
Background/Purpose: IgA production is the main barrier mechanism of mucosal surfaces. High affinity IgA is generated through T cell-dependent mechanisms and preferentially binds to invasive…
Abstract Number: 2995 • 2015 ACR/ARHP Annual Meeting
Genome Wide Analysis in Scleroderma Renal Crisis: Defining Genetic Risk in Patients with RNA Polymerase III Auto-Antibodies
Maria C Fonseca¹, Sandra Guerra¹, Edward Stern^1,2, Svetlana I. Nihtyanova¹, David Abraham³, Aine Burns², Mark Harber² and Christopher P. Denton⁴, ¹Rheumatology, UCL Division of Medicine, London, United Kingdom, ²Nephrology, Royal Free Hospital, London, United Kingdom, ³Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, ⁴Rheumatology and Connective Tissue Diseases, University College London, London, United Kingdom
Background/Purpose: Scleroderma renal crisis (SRC) is a severe complication of systemic sclerosis (SSc). Most SSc cases demonstrate a disease-specific antinuclear antibody including anti-RNA polymerase III…
Abstract Number: 3001 • 2015 ACR/ARHP Annual Meeting
Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis
Angel CY Mak¹, Paul LF Tang², Clare Cleveland^3,4, M Kari Connolly⁵, Tamiko Katsumoto^3,4, Paul Wolters⁶, Pui-Yan Kwok^2,5 and Lindsey A. Criswell⁷, ¹Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, ²Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, ³Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, San Francisco, CA, ⁴Department of Medicine, University of California, San Francisco, San Francisco, CA, ⁵Department of Dermatology, University of California, San Francisco, San Francisco, CA, ⁶Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ⁷Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, University of California, San Francisco, San Francisco, CA
Background/Purpose: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies (GWAS) have identified a large number of gene regions…

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