Abstracts tagged "genomics"

Abstract Number: 1630 • 2012 ACR/ARHP Annual Meeting
Genetic Variants of Serum Uric Acid and Gout: An Analysis of > 170,000 Individuals
Hyon Choi¹, Robert M. Plenge², Anna Köttgen³, Veronique Vitart⁴, Murielle Bochud⁵, Christian Gieger⁶, Mark Caulfield⁷, Marina Ciullo⁸, Eva Albrecht⁶, Alexander Teumer⁹, Gary Curhan¹⁰, Jan Krumsiek¹¹, Conall O'Seaghdha¹², Caroline Fox¹³ and The Global Urate Genetics Consortium (GUGC)¹⁴, ¹Section of Rheumatology and the Clinical Epidemiology Unit, Boston University School of Medicine, Boston, MA, ²Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Renal Division, Freiburg University Hospital, Freiburg, Germany, ⁴Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom, ⁵Institute of Social and Preventive Medicine (IUMSP), Lausanne University Hospital, Switzerland, ⁶German Research Center for Environmental Health, Neuherberg, Germany, ⁷William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ⁸Institute of Genetics and Biophysics, "A. Buzzati-Traverso", Italy, ⁹Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt- University Greifswald, Greifswald, Germany, ¹⁰German Research Center for Environmental Health, Harvard Medical School, Boston, MA, ¹¹Institute of Bioinformatics and Systems Biology, German Research Center for Environmental Health, Neuherberg, Germany, ¹²German Research Center for Environmental Health, NHLBI's Framingham Heart Study and Center for Population Studies,, Neuherberg, ¹³Institute of Genetics and Biophysics, NHLBI's Framingham Heart Study and Center for Population Studies, Framingham, MA, ¹⁴Section of Rheumatology and the Clinical Epidemiology Unit, Boston University of School of Medicine, Boston, MA
Background/Purpose: Gout is a common and excruciatingly painful inflammatory arthritis caused by hyperuricemia. In addition to various lifestyle risk factors, a substantial genetic predisposition to…
Abstract Number: 660 • 2012 ACR/ARHP Annual Meeting
Abnormal Neutrophil Development in Human Systemic Lupus Erythematosus
Namrata Singh¹, Mariana J. Kaplan², Philip L. Cohen³ and Michael F. Denny³, ¹Internal Medicine, Temple University, Philadelphia, PA, ²Systemic Autoimmunity Branch, National Institutes of Health/NIAMS, Bethesda, MD, ³Rheumatology, Temple University, Philadelphia, PA
Background/Purpose: Recent research has increased the appreciation of the contributions of neutrophils to systemic lupus erythematosus (SLE). An abnormal circulating pool of granulocytes has been…
Abstract Number: 1475 • 2012 ACR/ARHP Annual Meeting
Does Skin Gene Expression Profile Predict Response to Imatinib?
Shervin Assassi¹, Jeffrey T. Chang², Dinesh Khanna³, Xiaochun Liu¹, Daniel Furst⁴ and Maureen D. Mayes⁵, ¹Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, ²University of Texas Health Science Center at Houston, Houston, TX, ³Division of Rheumatology, University of Michigan Medical Center, Ann Arbor, MI, ⁴David Geffen School of Medicine, Div of Rheumatology, University of California at Los Angeles, Los Angeles, CA, ⁵Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: Imatinib is a potent inhibitor of TGF-β signaling. Furthermore, a subgroup of SSc patients shows a prominent TGF-β gene expression signature in skin biopsy…
Abstract Number: 522 • 2012 ACR/ARHP Annual Meeting
Genetic Variation in the NCR3 Locus Is Associated with Anti-SSA⁄SSB Positive Primary Sjögren′s Syndrome in Scandinavian Samples
Gunnel Nordmark¹, Maija-Leena Eloranta¹, Per Eriksson², Elke Theander³, Helena Forsblad-d'Elia⁴, Roald Omdal⁵, Marie Wahren-Herlenius⁶, Roland Jonsson⁷ and Lars Rönnblom¹, ¹Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Rheumatology/AIR, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden, ³Dept of Rheumatology, Skane University Hospital, Lund University, Malmö, Sweden, ⁴Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden, ⁵Department of Internal Medicine, Stavanger university Hospital, Stavanger, Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, ⁶Dept of Medicine, Karolinska Institutet, Stockholm, Sweden, ⁷Broegelmann Research Laboratory, the Gade Institute, University of Bergen, Bergen, Norway
Background/Purpose: Candidate gene studies in primary Sjögren’s syndrome (pSS) have identified polymorphisms in genes involved in the type I interferon (IFN) system and the type…
Abstract Number: 1180 • 2012 ACR/ARHP Annual Meeting
The Sex-Determining Region Y Box 6 Locus: Shared Genetic Susceptibility Between Rheumatoid Arthritis and Psychotic Disorder
Tony R. Merriman¹, Nicola Dalbeth², Andrew Harrison³, John Highton⁴, Lisa K. Stamp⁵, Malcolm D. Smith⁶, Benedicte A. Lie⁷, Tore K. Kvien⁸, Timothy Radstake⁹, Marieke J.H. Coenen¹⁰, Barbara Franke¹¹, Jasper Broen¹², Piet Van Riel¹³, Pilar Barrera¹⁴, Sophia Steer¹⁵, Marilyn E. Merriman¹, Amanda Phipps-Green¹, Ruth Topless¹, Mansour Zamanpoor¹⁶ and Wan Rohani Wan Tain¹⁷, ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²Medicine, University of Auckland, Auckland, New Zealand, ³Rheumatology Unit, Hutt Hospital, Lower Hutt, New Zealand, ⁴Dept of Medicine, Univ of Otago Med Sch, Dunedin, New Zealand, ⁵Department of Medicine, University of Otago, Christchurch, Christchurch, New Zealand, ⁶Rheumatology Research Unit, Rheumatologist, Adelaide, Australia, ⁷Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ⁸Dept. of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway, ⁹Rheumatology, Radboud University Nijmegen Medical Centre, University Medical Center Utrecht, Nijmegen, Utrecht, Netherlands, ¹⁰Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹¹Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹²Department of Rheumatology & Clinical Immunology, University Medical Center, Utrecht, Netherlands, ¹³Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁴Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁵1 Sloane Ct East Flat 7, London, United Kingdom, ¹⁶University of Otago, Dunedin, New Zealand, ¹⁷Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Malaysia
Background/Purpose: Rheumatoid arthritis (RA) is a common autoimmune disease and schizophrenia (SZ) is a common psychotic disorder. There is an established negative association between RA…
Abstract Number: 433 • 2012 ACR/ARHP Annual Meeting
Genome Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with Anti-TNF Medication. Results of the DREAM and Danbio Registries
Marieke J.H. Coenen¹, Masha Umicevic-Mirkov², Hans Scheffer², Sophine B. Krintel³, Sita H. Vermeulen⁴, Julia S. Johansen³, Wietske Kievit⁵, Mart A.F.J. van de Laar⁶, Piet L.C.M. van Riel⁵, Barbara Franke² and Merete L. Hetland⁷, ¹Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ²Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ³DANBIO and Department of Rheumatology, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, ⁴Human Genetics and Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁵Department of Rheumatology and DREAM registry, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁶Department of Rheumatology and DREAM registry, Medisch Spectrum Twente & Twente University, Enschede, Netherlands, ⁷Copenhagen University Hospital Glostrup, Copenhagen, Denmark
Background/Purpose: Patients with rheumatoid arthritis (RA) rate pain relief as the highest priority in treatment outcome, and tumor necrosis factor inhibitors (anti-TNF) have proven very…
Abstract Number: 996 • 2012 ACR/ARHP Annual Meeting
Genetic Predictors of Methotrexate Efficacy and Toxicity in Early Rheumatoid Arthritis: Results From the Treatment of Early Aggressive Rheumatoid Arthritis Trial
Stella Aslibekyan¹, Elizabeth Brown², Richard J. Reynolds³, David T. Redden⁴, Sarah L. Morgan⁵, Joseph Baggott¹, Jin Sha¹, Larry W. Moreland⁶, James R. O'Dell⁷, Jeffrey R. Curtis⁸, S. Louis Bridges Jr.⁹ and Donna K. Arnett¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Univ of Alabama at Birmingham, Birmingham, AL, Birmingham, AL, ³Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁴Biostatistics, University of Alabama at Birmingham, Birmingham, AL, ⁵University of Alabama Birmingham, Birmingham, AL, ⁶Division of Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, ⁷Dept of Internal Medicine, Univ of Nebraska Med Ctr, Omaha, NE, ⁸Rheumatology & Immunology, Univ of Alabama-Birmingham, Birmingham, AL, ⁹Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Methotrexate (MTX) has emerged as first-line therapy for early moderate to severe rheumatoid arthritis (RA), but individual variation in treatment efficacy and toxicity remains…
Abstract Number: 424 • 2012 ACR/ARHP Annual Meeting
Influence of Pregnancy On Disease Activity-Associated Genes in Rheumatoid Arthritis
Erik J. Peterson¹, Shreyasee Amin², Hatice Bilgic³, Emily Baechler Gillespie³, Jane E. Salmon⁴, Ann M. Reed⁵, Weihua Guan⁶ and Daniel L. Mueller¹, ¹Medicine/Rheumatic and Autoimmune Diseases, University of Minnesota Medical School, Minneapolis, MN, ²Division of Rheumatology, Mayo Clinic, Rochester, MN, ³University of Minnesota Medical School, Minneapolis, MN, ⁴Rheumatology, Hospital for Special Surgery, New York, NY, ⁵Rheumatology, Mayo Clinic, Rochester, MN, ⁶University of Minnesota School of Public Health, Minneapolis, MN
Background/Purpose: Rheumatoid arthritis (RA) disease activity can often quiesce during pregnancy. Nevertheless, most women will experience a disease flare postpartum (PP). We hypothesized that changes…
Abstract Number: 997 • 2012 ACR/ARHP Annual Meeting
Evidence of Novel Genetic Predictors of Methotrexate Efficacy in Rheumatoid Arthritis
Stella Aslibekyan¹, Maria I. Danila², Jin Sha¹, David T. Redden³, Richard J. Reynolds⁴, Elizabeth Brown⁵, Laura B. Hughes⁶, Molly S. Bray¹, Sarah L. Morgan⁷, Larry W. Moreland⁸, James R. O'Dell⁹, Jeffrey R. Curtis¹⁰, Robert P. Kimberly¹¹, Lindsey A. Criswell¹², Robert M. Plenge¹³, S. Louis Bridges Jr.¹⁴ and Donna K. Arnett¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Med/Clinical Immun & Rheum, Univ of Alabama-Birmingham, Birmingham, AL, ³Biostatistics, University of Alabama at Birmingham, Birmingham, AL, ⁴Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁵Univ of Alabama at Birmingham, Birmingham, AL, Birmingham, AL, ⁶Med Div of Clin Imm & Rheum, University of Alabama at Birmingham, Birmingham, AL, ⁷University of Alabama Birmingham, Birmingham, AL, ⁸Division of Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, ⁹Dept of Internal Medicine, Univ of Nebraska Med Ctr, Omaha, NE, ¹⁰Rheumatology & Immunology, Univ of Alabama-Birmingham, Birmingham, AL, ¹¹Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ¹²Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹³Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ¹⁴Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Methotrexate (MTX), a disease-modifying anti-rheumatic drug used as first-line therapy in rheumatoid arthritis (RA), is characterized by considerable heterogeneity in individual treatment response. We…
Abstract Number: 409 • 2012 ACR/ARHP Annual Meeting
Pathway Analysis of Genome-Wide Association Studies On Rheumatoid Arthritis
Young Ho Lee¹, Sung Jae Choi², Jong Dae Ji² and Gwan Gyu Song³, ¹Internal Medicine, Rheumatology, Korea University Medical Center, Seoul, South Korea, ²Rheumatology, Korea University Medical Center, Seoul, South Korea, ³Div of Rheum, Dept of Int Med, Korea Univ College of Med, Seoul, South Korea
Background/Purpose: Genome-wide association studies (GWASs) have been successfully used to identify novel common genetic variants that contribute to susceptibility to complex diseases, but individual GWASs…
Abstract Number: 998 • 2012 ACR/ARHP Annual Meeting
Association Study of Genetic Risk Variants for Psoriasis in a Large Cohort of Psoriatic Arthritis, Psoriasis and Controls of the Spanish Population and Association with Relevant Clinical Subphenotypes
J. D. Cañete¹, Jose Luis Fernandez-Sueiro², Raimon Sanmarti³, Jesus Rodriguez⁴, Jordi Gratacós⁵, Rubén Queiro⁶, Juan Carlos Torre-Alonso⁷, Jose Perez Venegas⁸, Santiago Muñoz-Fernandez⁹, Carlos Gonzalez¹⁰, Carlos Montilla¹¹, Daniel Roig¹², Alba Erra¹³, Isabel Acosta¹⁴, Antonio Fernández-Nebro¹⁵, Pedro Zarco¹⁶, Arnald Alonso¹⁷, María América López-Lasanta¹⁷, Antonio Julià¹⁷, Raül Tortosa¹⁷ and Sara Marsal¹⁸, ¹Unitat d'Artritis, Servei de Reumatologia, Hospital Clínic de Barcelona,, Barcelona, Spain, ²Rheumatology Service, Complejo Hospitalario Universitario La Coruña, La Coruña, Spain, ³Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, ⁴Rheumatology, Hospital Universitari de Bellvitge, Barcelona, Spain, ⁵Rheumatology Service, Hospital Parc Taulí, Sabadell (Barcelona), ⁶Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, ⁷Rheumatology Service, Hospital Monte Naranco, Oviedo, Spain, ⁸Rheumatology Service, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, ⁹Rheumatology Service, Hospital Infanta Sofía, Madrid, Spain, ¹⁰Rheumatology Service, Hospital Gregorio Marañon, Madrid, Spain, ¹¹Unit Rheumatology, Hospital Universitario de Salamanca, Salamanca, Spain, ¹²Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, ¹³Rheumatology Service, Hospital San Rafael, Barcelona, Spain, ¹⁴Rheumatology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain, ¹⁵Rheumatology Service, Hospital Regional Universitario Carlos Haya, Málaga, Spain, ¹⁶Rheumatology Service, Fundación Hospital Alcorcon, Alcorcon, Madrid, Spain, ¹⁷Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ¹⁸Rheumatology, University Hospital Vall d'Hebron, Barcelona, Spain
Background/Purpose: Psoriatic Arthritis (PsA) is a complex disease with a substantial genetic risk component (first-degree relative risk ~ 55). Recently, Genomewide Association Studies (GWAS) have…
Abstract Number: 313 • 2012 ACR/ARHP Annual Meeting
Epigenetic Changes in Fibrosis and Myocyte Repair Genes May Contribute to Pathogenesis in Monozygotic Twins Discordant for Cardiac Manifestations of Neonatal Lupus
Paula S. Ramos¹, Timothy D. Howard², Miranda C. Marion³, Satria Sajuthi⁴, Robert M. Clancy⁵, Jill P. Buyon⁶ and Carl D. Langefeld⁴, ¹Department of Medicine, Medical University of South Carolina, Charleston, SC, ²Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, ³Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC, ⁴Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁵Medicine, New York University School of Medicine, New York, NY, ⁶Department of Medicine, New York University School of Medicine, New York, NY
Background/Purpose: Cardiac manifestations of neonatal lupus (cardiac-NL) which comprise conduction defects and cardiomyopathy, occur in fetuses exposed to maternal anti-Ro antibodies and carry a case…
Abstract Number: 999 • 2012 ACR/ARHP Annual Meeting
Identification of New Epistatic Interactions with the HLA Region in the Genetic Etiology of Psoriasis and Psoriatic Arthritis
Sara Marsal¹, Juan D. Cañete², Jose Luis Fernandez-Sueiro³, Raimon Sanmarti², Jesus Rodriguez Moreno⁴, Jordi Gratacós⁵, Rubén Queiro⁶, Carlos Montilla⁷, Juan Carlos Torre-Alonso⁸, Jose Perez Venegas⁹, Santiago Muñoz-Fernández¹⁰, Carlos M. Gonzalez¹¹, Daniel Roig¹², Alba Erra¹³, Isabel Acosta¹, Antonio Fernández-Nebro¹⁴, Pedro Zarco¹⁵, Arnald Alonso¹⁶, María América López-Lasanta¹⁶, Raül Tortosa¹⁶ and Antonio Julià¹⁶, ¹Rheumatology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain, ²Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, ³Rheumatology Service, Complejo Hospitalario Universitario La Coruña, La Coruña, Spain, ⁴Rheumatology Service, Hospital Universitario de Bellvitge., Barcelona, Spain, ⁵Rheumatology Service, Hospital Universitari Parc Taulí, Sabadell (Barcelona), Spain, ⁶Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, ⁷Rheumatology Service, Hospital Universitario de Salamanca, Salamanca, Spain, ⁸H. Monte Naranco, Oviedo, Spain, ⁹Rheumatology Service, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, ¹⁰Unit Rheumatology, Hospital Universitario Infanta Sofía, San Sebastián de los Reyes (Madrid), Spain, ¹¹Rheumatology, Hospital Gregorio Maranon, Madrid, Spain, ¹²Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, ¹³Rheumatology Service, Hospital San Rafael, Barcelona, Spain, ¹⁴Rheumatology Service, Hospital Regional Universitario Carlos Haya, Málaga, Spain, ¹⁵Rheumatology Service, Fundación Hospital Alcorcon, Alcorcon, Madrid, Spain, ¹⁶Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain
Background/Purpose: Psoriatic Arthritis (PsA) is a complex disease and is present in ~11% in patients with Psoriasis (Ps). Recently, Genomewide Association Studies (GWAS) have expanded…

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