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  • Abstract Number: 979 • 2012 ACR/ARHP Annual Meeting

    Cell-Type Specific Type I Interferon Signatures in Systemic Lupus Erythematosus and Viral Infection: What Makes the Difference?

    Chieko Kyogoku1, Joachim R. Grün1, Tobias Alexander2, Robert Biesen3, Falk Hiepe4, Thomas Häupl3, Andreas Radbruch1 and Andreas Grützkau1, 1German Rheumatism Research Centre Berlin (DRFZ), an institute of the Leibniz Association, Berlin, Germany, 2Department of Rheumatology and Clinical Immunology, Charité – University Hospital, Berlin, Germany, 3department of Rheumatology and Clinical Immunology, Charité University Hospital Berlin, Berlin, Germany, 4Med. Klinik m. Sp. Rheumatologie und klin. Immunologie, Charité University Hospital Berlin, Berlin, Germany

    Background/Purpose: Gene expression profiling experiments using peripheral blood mononuclear cells (PBMCs) revealed a crucial role of type I interferon (IFN) in the pathogenesis of systemic…
  • Abstract Number: 980 • 2012 ACR/ARHP Annual Meeting

    Genomewide Association Study in Systemic Lupus Erythematosus: Known Loci

    Antonio Fernandez-Nebro1, Patricia E. Carreira2, Ricardo Blanco3, Victor M. Martinez-Taboada4, Luis Carreño5, Alejandro Olive6, José Luis Andreu7, Mª Angeles Aguirre8, Paloma Vela9, Jose Javier Pérez Venegas10, Jose Luís Marenco11, Joan Miquel Nolla12, Antonio Zea13, José M. Pego-Reigosa14, Mercedes Freire González15, Gabriela Ávila16, María América López-Lasanta16, Raül Tortosa16, Antonio Julià16 and Sara Marsal16, 1Rheumatology, Hospital Regional Universitario Carlos Haya, Málaga, Spain, 2Rheumatology, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain, 3Rheumatology, Hospital Universitario Marques De Valdecilla, Santander, Spain, 4Rheumatology, Hospital Universitario Marques de Valdecilla. IFIMAV, Santander, Spain, 5Rheumatology, Gregorio Marañón Hospital, Madrid, Spain, 6Rheumatology Service, Germans Trias Pujol Hospital, Barcelona, Spain, 7Rheumatology, Puerta de Hierro Universitary Hospital, Madrid, Spain, 8Rheumatology, IMIBIC-Reina Sofia Hospital, Cordoba, Spain, 9Rheumatology, Hospital General Universitario de Alicante, Alicante, Spain, 10Rheumatology, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, 11Rheumatology, HU Puerta de Hierro Majadahonda, Madrid, Spain, 12Rheumatology, Hospital Universitario de Bellvitge, Barcelona, Spain, 13Rheumatology, Hospital Universitario Ramon y Cajal, Madrid, Spain, 14Rheumatology, Hospital do Meixoeiro, Vigo, Spain, 15Rheumatology, Complejo Hospitalario Universitario de La Coruña,, La Coruña, Spain, 16Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain

    Background/Purpose: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease with an estimated prevalence of 40:100,000 cases in European populations. SLE has a strong genetic…
  • Abstract Number: 981 • 2012 ACR/ARHP Annual Meeting

    Aggregated Genetic Information Explains Variations On Hand Radiographic Scores in Rheumatoid Arthritis Patient

    Jing Cui1, Nancy A. Shadick2, Katherine P. Liao3, Michael Weinblatt4, Robert M. Plenge5 and Elizabeth W. Karlson3, 1Rheumatology, Brigham and Women's Hospital, Boston, MA, 2Rheumatology/Immunology, Brigham and Women's Hospital, Boston, MA, 3Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 4Rheumatology & Immunology, Brigham & Women's Hospital, Boston, MA, 5Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA

    Background/Purpose: Rheumatoid arthritis (RA) has an estimated heritability of approximately 60%. Joint destruction as a severity measure of RA is influenced by genetic factors, however…
  • Abstract Number: 982 • 2012 ACR/ARHP Annual Meeting

    Genetic Variants near Insulin-Like Growth Factor Binding Protein 3 (IGFBP3) Are Associated with Hip Osteoarthritis

    Daniel S. Evans1, Neeta Parimi1, Ana M. Valdes2, Hanneke J.M Kerkhof3, Frederic Cailotto4, Michael C. Nevitt5, Steven R. Cummings1, Rik J. Lories6, Timothy D. Spector7, Nigel K. Arden8, Joyce B. van Meurs3 and Nancy E. Lane9, 1California Pacific Medical Center Research Institute, San Francisco, CA, 2Department of Twin Research and Genetic Epidemiology, Dept of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, King's College London, London, United Kingdom, 3Department of Internal Medicine, Erasmus Medical Center and The Netherlands Genomics Initiative-Sponsored Netherlands Consortium for Healthy Aging, Rotterdam, Netherlands, 4Laboratory for Skeletal Development and Joint Disorders, Department of Development and Regeneration, KU Leuven, Leuven, Belgium, 5Epidemiology & Biostatistics, UCSF (University of California, San Francisco), San Francisco, CA, 6Dept of Development and Regeneration, Laboratory for Skeletal Development and Joint Disorders, KU Leuven, Leuven, Belgium, 7Dept of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom, 8NDORMS; MRC Lifecourse Epidemiology Unit, Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, United Kingdom, 9Internal Medicine, Center for Musculoskeletal Health, UC Davis School of Medicine, Sacramento, CA

    Background/Purpose: Hip osteoarthritis (HOA) is one of the most common joint disorders and can result in pain and disability.  HOA is heritable, but the particular…
  • Abstract Number: 983 • 2012 ACR/ARHP Annual Meeting

    Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 As a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis

    Jing Cui1 and International RA Consortium on Therapy (InteRACT)2, 1Rheumatology, Brigham and Women's Hospital, Boston, MA, 2Division of Rheumatology, Immunology and Allergy and Division of Genetics, Boston, MA

    Background/Purpose:  There are no biomarkers that predict response to anti-TNF therapy in rheumatoid arthritis (RA).  Here, we conduct a genome-wide association study (GWAS) to identify…
  • Abstract Number: 984 • 2012 ACR/ARHP Annual Meeting

    Association of Elevated C5a Levels, but Not the Presence of Anti-Cfh IgG Autoantibodies, with the Deletion of CFHR3 and CFHR1 in SLE

    Jian Zhao1, Seema Kamble1, Yun Deng1, Magdangal Erika1, Daisuke Sakurai2, Rongqun Li2, Weiling Chen2, Jennifer M. Grossman3, Bevra H. Hahn4 and Betty P. Tsao5, 1Division of Rheumatology, Department of Medicine,, Division of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 2Division of Rheumatology, Department of Medicine, Division of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 3Div of Rheumatology, Division of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 4Rheumatology, UCLA David Geffen School of Medicine, Los Angeles, CA, 5Medicine/Rheumatology, Division of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA

    Background/Purpose: We previously reported association of the deletion of complement regulator factor H related CFHR3 and CFHR1 genes (CFHR3-1Δ), rather than CFH exonic SNPs, with…
  • Abstract Number: 985 • 2012 ACR/ARHP Annual Meeting

    Inverse Relation Between the tumor Necrosis Factor Promoter Methylation and Trascript Leveles in Leukocytes From Patients with Rheumatoid Arthritis

    James R. Maxwell1, Lyndsey H. Taylor2, Richardo A. Pachecho2, Neil Lawrence2, Gordon W. Duff3, M. Dawn. Teare2 and Anthony G. Wilson4, 1University of Sheffield, Sheffield, United Kingdom, 2University of Sheffield, United Kingdom, 3Royal Hallamshire Hospital, Sheffield, United Kingdom, 4Infection and Immunity, University of Sheffield, Sheffield, United Kingdom

    Background/Purpose: The importance of the epigenetic signature in RA is unclear but levels of methylation of CpG motifs in the TNF promoter are known to…
  • Abstract Number: 986 • 2012 ACR/ARHP Annual Meeting

    Genome Wide Association Studies of Knee Osteoarthritis in 2 Large North American Cohorts: A Meta-Analysis with 2667 Cases

    Marc C. Hochberg1, Laura Yerges-Armstrong2, Changwan (Larry) Lu3, Michelle S. Yau4, Braxton D. Mitchell2, Joanne M. Jordan5, Youfang Liu6, Jordan B. Renner7, T. McSherry8, D.M. Taverna8, David Duggan9, W.J. Mysiw10 and Rebecca D. Jackson10, 1Department of Medicine, University of Maryland, Baltimore, MD, 2Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, 3University of Maryland School of Medicine, Baltimore, MD, 4University of Maryland, Baltimore, MD, 5Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, 6University of North Carolina, Chapel Hill, NC, 7University of North Carolina Department of Radiology, Chapel Hill, NC, 8TGen, Pheonix, AZ, 9Translational Genomics Research Institute, Phoenix, AZ, 10Ohio State University, Columbus, OH

    Background/Purpose: A strong genetic contribution to knee osteoarthritis (OA) is widely recognized although few loci have been robustly associated with knee OA susceptibility. To identify…
  • Abstract Number: 987 • 2012 ACR/ARHP Annual Meeting

    Autoimmune Susceptibility Genes Are Regulators of Gene Expression Response to ER Stress

    William E. Bernal1, Michael P. Morley2 and Vivian G. Cheung3, 1Division of Rheumatology, The Children's Hospital of Philadelphia, Philadelphia, PA, 2University of Pennsylvania, Philadelphia, PA, 3Pediatrics & Genetics, Howard Hughes Medical Institute, Chevy Chase, MD; University of Pennsylvania, Philadelphia, PA

    Background/Purpose: Endoplasmic recticulum (ER) stress is caused by excessive demands on the protein-processing capacity of the ER; inefficiencies in response to ER stress lead to…
  • Abstract Number: 988 • 2012 ACR/ARHP Annual Meeting

    Zone-Specific Protein Profiles in Human Cartilage Unraveled by a Quantitative Proteomic Approach

    Patricia Fernandez-Puente1, Lucia Lourido2, Valentina Calamia2, Jesus Mateos3, Cristina Ruiz-Romero4, Martin K. Lotz5 and Francisco J. Blanco6, 1Osteoarticular and Aging Research Group. Rheumatology Division, Biomedical Research Center (INIBIC). Hospital Universitario A Coruña, As Xubias de Arriba 84, 15006, A Coruña, Spain, 2Grupo de Proteomica-PBR2-ProteoRed/ISCIII-Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006., A Coruña, Spain, 3Osteoarticular and Aging Research Laboratory, Proteomics Unit-Associated Node to ProteoRed-ISCIII, INIBIC-CHUAC, A Coruña, Spain, 4Grupo de Proteomica-PBR2-ProteoRed/ISCIII Servicio de Reumatologia. Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006 A Coruña, Spain, A Coruña, Spain, 5Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, 6Rheumatology Division, Proteomics Group/ProteoRed-ISCIII, INIBIC-C. Hospitalario, A Coruña, Spain

    Background/Purpose: Articular cartilage consists of a single type of cells called chondrocytes, which comprise 2-5% of total tissue mass and an extracellular matrix (ECM) mainly…
  • Abstract Number: 989 • 2012 ACR/ARHP Annual Meeting

    Genome-Wide Analysis Reveals a Recessive Association of ERAP1 Variants with Behçet’s Disease and Epistasis Between ERAP1 and HLA-B*51

    Elaine F. Remmers1, Yohei Kirino2, George Bertsias2, Yoshiaki Ishigatsubo3, Yoonhee Kim4, Michael J. Ombrello5, Ilknur Tugal-Tutkun6, Emire Seyahi7, Yilmaz Ozyazgan8, F. Sevgi Sacli9, Burak Erer10, Zeliha Emrence11, Atilla Cakar11, Neslihan Abaci11, Duran Ustek11, Colleen Satorius1, Mitsuhiro Takeno3, Ahmet Gül12 and Daniel L. Kastner1, 1Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 2Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 3Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 5Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 6Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 7Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, 8Ophthalmology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, 9Division of Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, 10Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, 11Genetics, Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, 12Department of Internal Medicine, Division of Rheumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

    Background/Purpose: We recently performed a genome-wide association study in 1215 patients with Behçet’s disease (BD) and 1278 controls from Turkey and found disease-associated variants within…
  • Abstract Number: 990 • 2012 ACR/ARHP Annual Meeting

    Proteomic Shotgun Analysis of Mesenchymal Stem Cells Reveals an Alterated Regulation of Proteosomal Proteins in Osteoarthritis Patients

    Jose Ramon Lamas, Rheumatology, Hospital Clinico San Carlos, Madrid, Spain

    Background/Purpose:   To describe proteins with a potential role in OA pathogenesis, in this study we have followed a proteomic approach based on a shotgun…
  • Abstract Number: 991 • 2012 ACR/ARHP Annual Meeting

    MTHFR Polymorphisms in Systemic Lupus Erythematosus and Rheumatoid Arthritis: Associations with Intima Media Thickness Scores

    Clio P. Mavragani1, Maira Giannelou2, Ioanna Papadaki3, Eleni Antypa4, Dimitrios Ioakeimidis5, Haralampos M. Moutsopoulos2 and Michael Koutsilieris6, 1Department of Experimental Physiology, School of Medicine, University of Athens, Athens, Greece, Athens, Greece, 2Department of Pathophysiology, School of Medicine, University of Athens, Athens, Greece, 3Department of Rheumatology, General Hospital of Athens "G.Gennimatas", Athens, Greece, 4Department of Radiology, General Hospital of Athens, Greece, 5Department of Rheumatology, General Hospital, Greece, 6Department of Physiology, Athens University Medical School, Athens, Greece

    Background/Purpose: Previous studies identified polymorphisms in the gene coding for the Methylenetetrahydrofolatereductase (MTHFR) enzyme as genetic contributors for cardiovascular disease in the general population. The…
  • Abstract Number: 992 • 2012 ACR/ARHP Annual Meeting

    Functional Genomics of the Human ITGAM Locus

    Yebin Zhou1, Dan C. Bullard1, Alexander Szalai2, Jianming Wu3 and Jeffrey C. Edberg4, 1Genetics, University of Alabama at Birmingham, Birmingham, AL, 2Rheumatology, University of alabama at birmingham, Birmingham, AL, 3Veterinary and Biomedical Science, Medicine, University of minnesota, St. Paul, MN, 4Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL

    Background/Purpose: ITGAM encodes CD11b, the αM subunit of the Mac-1 -αMβ2 integrin. Mac-1 has many functions on leukocytes including its role as an adhesion molecule…
  • Abstract Number: 993 • 2012 ACR/ARHP Annual Meeting

    A Genome-Wide DNA Methylation Analysis Reveals Different Methylation Patterns in the OA Disease

    Ignacio Rego-Pérez1, Juan Fernandez-Tajes2, Mercedes Fernandez-Moreno2, Maria Tamayo Novas3, Alejandro Mosquera Rey3, Natividad Oreiro2, Carlos Fernandez-Lopez2, Jose Luis Fernandez Garcia3 and Francisco J. Blanco2, 1Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 2INIBIC-Hospital Universitario A Coruña. Rheumatology Division. Genomic Group, A Coruña, Spain, 3INIBIC-Hospital Universitario A Coruña. Genetic Deparment., A Coruña, Spain

     Background/Purpose: DNA methylation is a basic mechanism involved in epigenetic regulation that affects gene transcription by the addition of a methyl group to the cytosine…
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