Abstracts tagged "Genetic Biomarkers"

Abstract Number: 2966 • 2014 ACR/ARHP Annual Meeting
Genome-Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with TNF Inhibitors
Marieke J.H. Coenen¹, Maša Umicevic-Mirkov¹, Sophine B. Krintel², Julia Johansen³, Corinne Miceli-Richard⁴, Henrik Kallberg⁵, Hans Scheffer¹, Wietske Kievit¹, Mart A. van de Laar⁶, Piet L.C.M. van Riel¹, X. Mariette⁷, Saedis Saevarsdottir⁸, Merete Lund Hetland⁹, Sita Vermeulen¹ and Cornelis A. Albers¹, ¹Radboud university medical center, Nijmegen, Netherlands, ²Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, ³Department of Medicine, Herlev, University of Copenhagen, Frederiksberg, Denmark, ⁴Rheumatology Department, Université Paris-Sud 11, Bicêtre Hospital,, Kremlin Bicêtre, France, ⁵Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ⁶University Twente & Medisch Spectrum Twente, Enschede, Netherlands, ⁷Paris-Sud University, Paris, France, ⁸Rheumatology Unit, Dept. of Medicine, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden, ⁹DANBIO, Center for Rheumatology and Spine Diseases, Glostrup Univ Hospital, Glostrup, Denmark
Background/Purpose: Pain is the dominant and prevailing symptom of rheumatoid arthritis (RA). Tumor necrosis factor inihibitors (TNFi) have proven very successful in pain reduction. Interestingly,…
Abstract Number: 2213 • 2014 ACR/ARHP Annual Meeting
Gene Expression Profiling of T Helper Subsets in Blood and Affected Muscle Tissues Reveals Differential Activation Pathways in Patients with Juvenile and Adult Dermatomyositis
Consuelo Lopez de Padilla¹, Molly S. Hein¹, Cynthia S. Crowson², Richard S. Pendegraft³, Erik J. Peterson⁴, Emily Baechler⁵ and Ann M. Reed¹, ¹Rheumatology, Mayo Clinic, Rochester, MN, ²Health Sciences Research, Mayo Clinic, Rochester, MN, ³Biomedical Statistics and informatics, Rochester, MN, ⁴University of Minnesota, Minneapolis, MN, ⁵Medicine, University of Minnesota, Minneapolis, MN
Background/Purpose: The molecular and cellular basis for juvenile and adult dermatomyositis (JDM and ADM) presumably is similar. However, important differences in the clinical features, outcome…
Abstract Number: 2171 • 2014 ACR/ARHP Annual Meeting
Polymorphisms in theÂ FCN1Â Gene Coding for M-Ficolin Are Associated with Disease Activity, Radiographic Damage and Are the Strongest Predictors of DAS28 Remission in 180 DMARD naÃ¯ve Early Rheumatoid Arthritis Patients
Christian G. Ammitzbøll¹, Rudi Steffensen², Steffen Thiel³, Jens Christian Jensenius³, Kim Horslev-Petersen⁴, Torkell Ellingsen^5,6, Merete Lund Hetland⁷, Peter Junker⁸, Mikkel Ostergaard⁹ and Kristian Stengaard-Pedersen¹⁰, ¹Arhus University Hospital, Aarhus, Denmark, ²Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark, ³Biomedicine, Aarhus University, Aarhus, Denmark, ⁴Rheumatology, Research Unit at King Christian X Hospital for Rheumatic Diseases, Graasten, Graasten, Denmark, ⁵Reumatology, Odense University Hospital, Odense, Denmark, ⁶Diagnostic Center, Regional Hospital Silkeborg, Silkeborg, Denmark, ⁷DANBIO, Department of Rheumatology, Copenhagen University Hospital at Glostrup, Copenhagen, Denmark, ⁸Department of Rheumatology, Odense University Hospital, Odense, Denmark, ⁹Dept of Rheumatology RM, Copenhagen University Hospital, Glostrup, Denmark, ¹⁰Rheumatology, Arhus University Hospital, Aarhus, Denmark
Background/Purpose: M-ficolin is a pattern recognition molecule that collaborates with associated serine proteases as an activator of the complement system. High M-ficolin levels are strongly…
Abstract Number: 1896 • 2014 ACR/ARHP Annual Meeting
Validation of a Novel IFN-Regulated Gene Score As Biomarker in Chronic Atypical Neutrophilic Dermatosis with Lipdoystrophy and Elevated Temperature (CANDLE) Patients on Baricitinib, a Janus Kinase 1 /2 Inhibitor, a Proof of Concept
Hanna Kim¹, Steve Brooks², Yin Liu¹, Adriana Almeida de Jesus³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Nicole Plass¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²NIAMS/NIH, Bethesda, MD, ³Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose CANDLE syndrome is a novel autoinflammatory disease with strong IFN response signature. We hypothesize that IFN dysregulation may drive clinical manifestations in CANDLE and…
Abstract Number: 1290 • 2014 ACR/ARHP Annual Meeting
Knee Osteoarthritis Progression Is Predictable By Genetic Polymorphisms. Results from a Multicenter Association Study
Francisco J Blanco¹, Ingrid Möller², Nerea Bartolome³, Marta Artieda³, Diego Tejedor³, Antonio Martínez⁴, Eulàlia Montell⁵, Helena Martínez⁵, Marta Herrero⁵ and Josep Vergés⁵, ¹INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ²Instituto Poal de Reumatología., Barcelona, Spain, ³Progenika Biopharma, a Grifols Company, Derio, Bizkaia, Spain, ⁴Progenika, a Grifols Company, Derio, Bizkaia, Spain, ⁵Pharmascience Division, Bioiberica S.A., Barcelona, Spain
Background/Purpose: Single Nucleotide Polymorphisms (SNPs) are inherited genetic variations that can predispose or protect individuals against clinical events. Osteoarthritis (OA) has a multifactorial etiology with…
Abstract Number: 747 • 2014 ACR/ARHP Annual Meeting
Systemic Sclerosis Patients with Antitopoisomerase Antibodies Showed Significant Association with CCR6 Polymorphisms
Javier Martin¹, Eguzkine Ochoa², Jose Ezequiel Martin¹, Shervin Assassi³, Lorenzo Beretta⁴, Patricia Carreira⁵, Carmen Pilar Simeon⁶, Eugénie Koumakis⁷, Philippe Dieude⁸, Yannick Allanore⁹, Francisco J. García-Hernández¹⁰, Gerard Espinosa¹¹, Ivan Castellvi Barranco¹², Luis Trapiella¹³, Luis Rodriguez Rodriguez¹⁴, Miguel A González-Gay¹⁵, María-Victoria Egurbide¹⁶, Luis Saez¹⁷, José Luis Callejas¹⁸, JA Vargas-Hitos¹⁹, Nicolas Hunzelmann²⁰, Gabriela Riemekasten²¹, Torsten Witte²², Jörg HW Distler²³, Alexander Kreuter²⁴, Claudio Lunardi²⁵, Alessandro Santaniello²⁶, Filemon K. Tan³, Frank C. Arnett³, Paul Shiels²⁷, Ariane L. Herrick²⁸, Jane Worthington²⁹, Madelon C. Vonk³⁰, Bobby P.C. Koeleman³¹, T.R.D.J. Radstake³² and Maureen Mayes³³, ¹Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ²Immunology, Instituto de Parasitología y Biomedicina Lopez Neyra (IPBLN-CSIC), Granada, Spain, ³Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁴Via Francesco Sforza 28, Ospedale Maggiore Policlinico, Milano, Italy, ⁵Hospital Universitario 12 de Octubre, Department of Rheumatology, Madrid, Spain, ⁶Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain, ⁷Rheumatology A department, Cochin Hospital, Paris Descartes University, Rheumatology A department, Cochin Hospital, Paris, France, ⁸Rhumatologie, Hopital Bichat Claude Bernard, Paris, France, ⁹Department of Rheumatology, University Paris Descartes and Cochin Hospital, Paris, France, ¹⁰Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain, ¹¹Department of Autoimmune Diseases, Hospital Clínic, Barcelona, Barcelona, Spain, ¹²Hosp. De Sta. Creu i S. Pau, Vilafranca del Pened, Spain, ¹³Department of Internal Medicine,, Hospital Universitario Central de Asturias, Asturias, Spain, ¹⁴Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ¹⁵Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVAL, Santander, Spain, ¹⁶Autoimmune Disease Research Unit, Service of Internal Medicine,, Hospital de Cruces, UPV/EHU, Barakaldo, Spain, Barakaldo, Spain, ¹⁷Unidad de Enfermedades Autoinmunes, Servicio de Medicina Interna, Hospital Miguel Servet, Zaragoza, Spain, ¹⁸Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain, ¹⁹Internal Medicine, Hospital Universitario Virgen de las Nieves, Granada, Spain, ²⁰Department of Dermatology, University of Cologne, Cologne, Germany, ²¹Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany, ²²Clinic for Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ²³Department of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, ²⁴Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, ²⁵Department of Medicine, Università degli Studi di Verona, Verona, Italy, ²⁶Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ²⁷University of Glasgow, Glasgow, United Kingdom, ²⁸Musculoskeletal Research Group, School of Translational Medicine, Manchester Academic Health Science Centre, Salford Royal Hospital, University of Manchester., Salford, United Kingdom, ²⁹Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester, United Kingdom, ³⁰Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ³¹Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ³²Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ³³Internal Medicine/Rheumatology, University of TX Health Science Center -Houston, Houston, TX
Background/Purpose: Systemic sclerosis (SSc), also known as scleroderma, is an inflammatory autoimmune disease characterized by fibrosis of the skin and internal organs, vascular damage and…
Abstract Number: 406 • 2014 ACR/ARHP Annual Meeting
The Utility of HLA-DR Genotypification As a Complementary Tool to Discriminate Undifferentiated and Rheumatoid Arthritis Patients in Early Arthritis
Fernando Dal Pra¹, Gustavo Citera², Margarita Landi³, Christian A. Waimann⁴, Luis Alejandro Cayetti², Sergio Paira⁵, Federico Ceccatto⁶, Teresita Alvarellos⁷, Luciana Mas⁷, Josefina Marcos⁸, Mercedes García⁸, A Salas⁸, Alejandro Martinez⁹, Rafael Chaparro¹⁰, Oscar Luis Rillo¹¹, Edson Veloso¹², Ricardo V. Juárez¹³, Maria Elena Crespo¹⁴, Antonio Catalán Pellet¹⁵, Anastasia Secco¹⁵, Lucila Marino¹⁶ and V Martire¹⁵, ¹Instituto de Rehabilitacion Psicofisica, Buenos Aires, Argentina, ²Instituto de Rehabilitación Psicofísica, Buenos Aires, Argentina, ³Rheumatology, Instituto Rehabilitacion Psicofisica, Buenos Aires, Argentina, ⁴Rheumatology, Hospital Olavarria, Olavarria, Argentina, ⁵Section of Rheumatology, Hospital Jose Maria Cullen, Santa Fe, Argentina, ⁶Rheumatology, Hospital Jose María Cullen, Santa Fé, Argentina, ⁷Laboratorio de Histocompatibilidad, Hospital Privado Centro Medico De Córdoba, Cordoba, Argentina, ⁸HIGA San Martín, La Plata, Argentina, ⁹Rheumatology Unit, Hospital General de Agudos Dr. E. Tornú, Buenos Aires, Argentina, ¹⁰Rheumatology, Hospital Gral. de Agudos Dr. E. Tornú, Buenos Aires, Argentina, ¹¹Rheumatology Section, Hospital General de Agudos Dr. E. Tornú, Buenos Aires, Argentina, ¹²Sanatorio y Universidad Adventista Del Plata, Entre Rios, Argentina, ¹³Rheumatology Section, Hospital Señor del Milagro, Salta, Argentina, ¹⁴Hospital Señor Del Milagro, Salta, Argentina, ¹⁵Rheumatology, Hospital Bernardino Rivadavia, Buenos Aires, Argentina, ¹⁶Rheumathology, Hospital Bernardino Rivadavia, Buenos Aires, Argentina
Background/Purpose: Only half of patients with undifferentiated arthritis (UA) will progress to rheumatoid arthritis (RA) after two years of follow-up. Particular human leukocyte antigens class…
Abstract Number: 386 • 2014 ACR/ARHP Annual Meeting
Association of Pharmacogenetic Markers with Treatment Response in Patients with Rheumatoid Arthritis
Ute I. Schwarz¹, Janet E. Pope², Edward Keystone³, Boulos Haraoui⁴, Carter Thorne⁵, Yun-Hee Choi¹, Melanie Poulin-Costello⁶, Nabil Bayan⁷ and Richard B. Kim¹, ¹Western University, London, ON, Canada, ²Medicine, Western University, London, ON, Canada, ³Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada, ⁴University of Montreal Hospital Centre, Montreal, QC, Canada, ⁵Southlake Regional Health Centre, Newmarket, ON, Canada, ⁶Biostatistics, Amgen Canada Inc., Mississauga, ON, Canada, ⁷Amgen Canada Inc., Mississauga, ON, Canada
Background/Purpose : In the CAnadian Methotrexate and Etanercept Outcome Study (CAMEO) continued therapy with etanercept (ETN) and methotrexate (MTX) led to better outcomes at month…
Abstract Number: 1201 • 2013 ACR/ARHP Annual Meeting
A Progress Report On An Emerging Disease: NOD2-Associated Autoinflammatory Disease
Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: We recently reported a new disease designated as NOD2-associated autoinflammatory disease (NAID). The aim of this study was to update the progress on defining the disease. Methods: A…
Abstract Number: 1211 • 2013 ACR/ARHP Annual Meeting
Adult Autoinflammatory Phenotypes Associated With Heterozygous MEFV Mutations: A Continuum of Familial Mediterranean Fever?
Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Familial Mediterranean fever (FMF) is traditionally regarded as an autosomal recessive disease characterized by periodic fever, serositis, erysipelas-like erythema and good response to colchicine. The…
Abstract Number: 687 • 2013 ACR/ARHP Annual Meeting
Role Of Class II Human Leukocyte Antigens In The Progression From Early To Definite Systemic Sclerosis
Barbara Vigone¹, Alessandro Santaniello², Maurizio Marchini¹, Gaia Montanelli¹, Monica Caronni¹, Adriana Severino¹, Stefania Celeste¹ and Lorenzo Beretta³, ¹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy, ²Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ³Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy
Background/Purpose: Criteria for the diagnosis of Early Systemic Sclerosis (EaSSc) have been formalized by LeRoy and Medsger in 2001 and later validated by Koenig et…
Abstract Number: 170 • 2013 ACR/ARHP Annual Meeting
Association Of BMI, 8 SNPs Reported To Be Related To Gout Phenotype and Their Interaction In Gout Incidence In Framingham Heart Study
Jasvinder A. Singh^1,2, Ana Vazquez³, Richard Reynolds³, Vinodh Srinivasasainagendra⁴, S. Louis Bridges Jr.⁵ and David Allison³, ¹Rheumatology, Birmingham VA, Birmingham, AL, ²Department of Medicine, University of Alabama, Tuscaloosa, AL, ³University of Alabama at Birmingham, Birmingham, AL, ⁴University of alabama at birmingham, birmingham, AL, ⁵Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: We aim to assess the association of 8 serum urate SNPs and BMI and their interactions with incident gout in a population-based cohort study. Methods:…
Abstract Number: 173 • 2013 ACR/ARHP Annual Meeting
HLA-DRB1*08:02 Is Associated With Bucillamine-Induced Proteinuria In Japanese Rheumatoid Arthritis Patients: A Case-Control Study
Hiroshi Furukawa¹, Shomi Oka¹, Kota Shimada², Shoji Sugii², Atsushi Hashimoto³, Akiko Komiya¹, Naoshi Fukui¹, Taiichiro Miyashita⁴, Kiyoshi Migita⁴, Akiko Suda⁵, Shouhei Nagaoka⁶, Naoyuki Tsuchiya⁷ and Shigeto Tohma¹, ¹Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ²Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ³Department of Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁴Clinical Research Center, Nagasaki Medical Center, National Hospital Organization, Omura, Japan, ⁵Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, ⁶Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ⁷Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan
Background/Purpose: Bucillamine (Buc) is one of the commonly used disease-modifying anti-rheumatic drugs (DMARDs) in Japan. Drug-induced proteinuria can occur in rheumatoid arthritis (RA) patients treated…
Abstract Number: 157 • 2013 ACR/ARHP Annual Meeting
Application Of a Multiplex Gene Polymorphism Assay For Variants Associated With Rheumatoid Arthritis Susceptibility: Results Of 168 Single Nucleotide Polymorphisms In The Optima Study
Jeffrey F. Waring¹, Viswanath Devanarayan², Kenneth Idler¹, Feng Hong², Josef S. Smolen³, Arthur Kavanaugh⁴, Hartmut Kupper⁵, Hendrik Schulze-Koops⁶ and Alla Skapenko⁷, ¹AbbVie Inc., North Chicago, IL, ²AbbVie Bioresearch Center, Worchester, MA, ³Medical University of Vienna and Hietzing Hospital, Vienna, Austria, ⁴University of California San Diego, La Jolla, CA, ⁵AbbVie Deutschland GmbH & Co. KG, Ludwigshafen, Germany, ⁶Division of Rheumatology, University of Munich, Munich, Germany, ⁷Division of Rheumatology and Clinical Immunology, University of Munich, Munich, Germany
Background/Purpose: Genetic factors have been identified that may be associated with the development and severity of rheumatoid arthritis (RA), disease progression, or response to treatment.…
Abstract Number: 2739 • 2013 ACR/ARHP Annual Meeting
Immunochip Analysis Identifies New Susceptibility Loci For Systemic Sclerosis: Implications For Pathogenesis
Maureen D. Mayes for the US Scleroderma GWAS Group¹, Lara Bossini-Castillo for the Spanish Scleroderma Group², Olga Gorlova³, Jose Ezequiel Martin⁴, Xiaodong Zhou¹, Wei Chen⁵, Shervin Assassi¹, Jun Ying⁵, John D. Reveille¹, Peter K. Gregersen⁶, Annette T. Lee⁷, Maria Teruel⁸, Francisco David Carmona⁴, Bobby P.C. Koeleman⁹, Matthew A. Brown and the Immunochip Consortium¹⁰, Christopher P. Denton¹¹, Murray Baron for the Canadian Scleroderma Research Group¹², Jasper Broen¹³, T.R.D.J. Radstake¹³ and Javier Martin⁴, ¹Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ²Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, ³Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, ⁴Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ⁵Department of Epidemiology, UT M.D. Anderson Cancer Center, Houston, TX, ⁶Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ⁷Genomics & Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ⁸Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, ⁹Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ¹⁰Translational Research Institute, University of Queensland Diamantina Institute, Brisbane, Australia, ¹¹Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ¹²Rheumatology, Jewish General Hospital, Montreal, QC, Canada, ¹³Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose : The purpose of this study was to identify SSc risk loci shared with other autoimmune diseases on the Immunochip and to fine-map previously…

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