Abstracts tagged "genetics"

Abstract Number: 1219 • 2014 ACR/ARHP Annual Meeting
Lack of Gene-Diuretic Interactions on Risk of Incident Gout: The Nurses’ Health Study and Health Professionals Follow-up Study
Ying Bao¹, Tony R. Merriman², Gary Curhan³, Eli A. Stahl⁴, David B. Mount⁵, Robert M. Plenge⁶, Peter Kraft⁷ and Hyon K. Choi⁸, ¹Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, ²Department of Biochemistry, University of Otago, Dunedin, New Zealand, ³German Research Center for Environmental Health, Harvard Medical School, Boston, MA, ⁴Mt Sinai School of Medicine, New York City, NY, ⁵Renal Division, Brigham and Women's Hospital, Boston, MA, ⁶Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women's Hospital, Boston, MA, ⁷Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, ⁸Boston University School of Medicine, Boston, MA
Background/Purpose: Diuretics, particularly thiazide and loop diuretics, increase the risk of gout, likely through urate transporters (e.g., OAT4) and volume depletion promoting urate reabsorption. As…
Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting
Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter
David B. Mount^1,2, Tony R. Merriman³, Eli A. Stahl⁴, Hyon K. Choi⁵ and Asim Mandal¹, ¹Renal Division, Brigham and Women's Hospital, Boston, MA, ²Renal Division, VA Boston Healthcare System, Boston, MA, ³Department of Biochemistry, University of Otago, Dunedin, New Zealand, ⁴Mt Sinai School of Medicine, New York City, NY, ⁵Boston University School of Medicine, Boston, MA
Background/Purpose: Variation in SLC2A9, which encodes the urate transporter GLUT9, is the major single genetic determinant of serum uric acid (SUA); however, the causal variant(s)…
Abstract Number: 1134 • 2014 ACR/ARHP Annual Meeting
Role of NOD2 Pathway in Sarcoidosis Cases with Characteristics of Blau Syndrome
Gerard Dumancas¹, Indra Adrianto², Albert M. Levin³, Michael C. Iannuzzi⁴, Benjamin A. Rybicki³ and Courtney Montgomery⁵, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²825 Ne 13th St. Ms 57, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, ⁴Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, ⁵Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad symptoms of symmetric arthritis, dermatitis, and granulomatous recurrent uveitis,…
Abstract Number: 1133 • 2014 ACR/ARHP Annual Meeting
Genetic Variants Influencing Joint Damage in Mexican Americans and European Americans with Rheumatoid Arthritis
Rector Arya¹, del Rincon Inmaculada², Vidya S Farook³, Jose Felix Restrepo⁴, Deidre A Winnier⁵, Marcel J Fourcaudot², Daniel Battafarano⁶, Satish Kumar⁷, Marcio AA de Almeida³, Joanne E Curran⁷, Christopher P Jenkinson⁵, John Blangero³, Ravindranath Duggirala⁷ and Agustin Escalante^4,8,9, ¹Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, ²Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX, ³Genetics, Texas Biomedical Research Institute, San Antonio, TX, ⁴Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁵University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁶Rheumatology, San Antonio Military Medical Center, JBSA - Ft Sam Houston, TX, ⁷Texas Biomedical Research Institute, San Antonio, TX, ⁸Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁹Dept. of Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX
Background/Purpose: Joint damage in rheumatoid arthritis (RA) has been shown to be heritable, but knowledge on specific genetic determinants of joint damage in RA is…
Abstract Number: 1131 • 2014 ACR/ARHP Annual Meeting
Identification of Genetic Variants Associated with Response to Adalimumab Plus Methotrexate in Patients with Early Rheumatoid Arthritis
Alla Skapenko¹, Hendrik Schulze-Koops¹, Viswanath Devanarayan², Kenneth Idler³, Feng Hong⁴, Josef Smolen⁵, Arthur Kavanaugh⁶, Hartmut Kupper⁷ and Jeffrey F. Waring³, ¹Division of Rheumatology and Clinical Immunology, University of Munich, Munich, Germany, ²AbbVie Bioresearch Center, Worcester, MA, ³AbbVie Inc., North Chicago, IL, ⁴AbbVie Bioresearch Center, Worchester, MA, ⁵Medical University of Vienna and Hietzing Hospital, Vienna, Austria, ⁶University of California San Diego, La Jolla, CA, ⁷AbbVie Deutschland GmbH & Co. KG, Ludwigshafen, Germany
Background/Purpose: For patients with rheumatoid arthritis (RA) who fail to attain remission or low disease activity after 6 months of methotrexate (MTX) treatment, TNF inhibitors…
Abstract Number: 2958 • 2014 ACR/ARHP Annual Meeting
Polygenic Analysis of Transport, Metabolism and Immune Related Genomic Compartments in Serum Urate and Gout
Eli A. Stahl¹, Tony R. Merriman², Amanda Dobbyn³, David B. Mount⁴, Peter Kraft⁵ and Hyon K. Choi⁶, ¹Mt Sinai School of Medicine, New York City, NY, ²Department of Biochemistry, University of Otago, Dunedin, New Zealand, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴Renal Division, Brigham and Women's Hospital, Boston, MA, ⁵Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, ⁶Division of Rheumatology, Allergy, and Immunology Massachusetts General Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Genome wide association studies (GWAS) have identified loci associated with complex traits, and the current challenge is to glean biological insights from these findings.…
Abstract Number: 926 • 2014 ACR/ARHP Annual Meeting
Does a Family History of Total Knee Replacement for Knee Osteoarthritis Influence Knee Pain and Structural Progression? a Prospective Longitudinal Cohort Study
Feng Pan¹, Hussain Khan¹, Changhai Ding¹, Tania Winzenberg², Johanne Martel-Pelletier³, Jean-Pierre Pelletier³, Flavia Cicuttini⁴ and Graeme Jones¹, ¹Musculoskeletal Unit, Menzies Research Institute Tasmania, University of Tasmania, Hobart,7000, Australia, ²Menzies Research Institute Tasmania, University of Tasmania, Hobart,7000, Australia, ³Osteoarthritis Research Unit, University of Montreal Hospital Research Centre (CRCHUM), Notre-Dame Hospital, Montreal, QC, Canada, ⁴Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia
Background/Purpose: Genetic factors appear to play an important role in the pathogenesis of both knee pain and radiographic osteoarthritis (OA) based on cross-sectional studies but…
Abstract Number: 2959 • 2014 ACR/ARHP Annual Meeting
Twenty-Eight Loci That Influence Serum Urate Levels: Analysis of Association with Gout
Tony R. Merriman¹, Marilyn E. Merriman¹, Ruth Topless¹, Sara Altaf², Grant Montgomery³, Christopher Franklin⁴, Gregory T. Jones⁵, Andre M. van Rij², Douglas HN White⁶, Lisa K. Stamp⁷, Nicola Dalbeth⁸ and Amanda Phipps-Green¹, ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³Queensland Institute of Medical Research, Brisbane, Australia, ⁴University of Auckland, Auckland, New Zealand, ⁵Surgery, University of Otago, Dunedin, New Zealand, ⁶Waikato Clinical School, Waikato Hospital, Hamilton, New Zealand, ⁷University of Otago, Christchurch, New Zealand, ⁸Department of Medicine, University of Auckland, Auckland, New Zealand
Background/Purpose: Twenty-eight genetic loci are associated with serum urate levels in Europeans. Ten are established, with a further 18 of weaker effect more recently detected.…
Abstract Number: 880 • 2014 ACR/ARHP Annual Meeting
An Immunochip Study Confirms a Strong Contribution of HLA Class I and II Genes in the Susceptibility to Giant Cell Arteritis
Francisco David Carmona¹, Sarah Mackie², Jose Ezequiel Martin¹, John Taylor², Augusto Vaglio³, Lara Bossini-Castillo¹, Santos Castañeda⁴, Maria C. Cid⁵, José Hernández-Rodríguez⁶, Roser Solans⁷, Ricardo Blanco⁸, Lorenzo Beretta⁹, Claudio Lunardi¹⁰, Marco A. Cimmino¹¹, Cisca Wijmenga¹², Torsten Witte¹³, Julia Holle¹⁴, Frank Moosig¹⁴, Verena Schönau¹⁵, Andre Franke¹⁶, Øyvind Palm¹⁷, Andreas P. Diamantopoulos¹⁸, Benedicte A. Lie¹⁹, Simon Carette²⁰, David Cuthbertson²¹, Gary S. Hoffman²², Nader A. Khalidi²³, Curry L. Koening²⁴, Carol A. Langford²⁵, Carol McAlear²⁶, Larry Moreland²⁷, Paul A. Monach²⁸, Christian Pagnoux²⁰, Philip Seo²⁹, Antoine G. Sreih³⁰, Kenneth J. Warrington³¹, Steven R. Ytterberg³¹, Colin T. Pease³², Andrew Gough³³, Michael Green³⁴, Lesley Hordon³⁵, Stephen Jarrett³⁶, Richard Watts³⁷, Sarah Levy³⁸, Yusuf Patel³⁹, Sanjeet Kamath⁴⁰, Bhaskar Dasgupta⁴¹, Paul IW. de Bakker⁴², Bobby P.C. Koeleman⁴², Jennifer H. Barrett², Carlo Salvarani⁴³, Peter A. Merkel⁴⁴, Miguel A. Gonzalez-Gay⁸, Ann W. Morgan² and Javier Martin¹, ¹Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ²NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds, United Kingdom, ³Unit of Nephrology, University Hospital of Parma, Parma, Italy, ⁴Rheumatology, Hospital Universitario de La Princesa, IISP, Madrid, Spain, ⁵Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036- Barcelona, Spain, ⁶Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ⁷Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain, ⁹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹⁰Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹¹Department of Internal Medicine, Academic Unit of Clinical Rheumatology, University of Genova, Genova, Italy, ¹²Department of Genetics, University Medical Hospital Groningen, University of Groningen, Groningen, Netherlands, ¹³Clinic for Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ¹⁴Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt, Germany, ¹⁵Department of Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen, Germany, ¹⁶Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany, ¹⁷Department of Rheumatology, Oslo University Hospital and University of Oslo, Oslo, Norway, ¹⁸Department of Rheumatology, Hospital of Southern Norway Trust, Kristiansand, Norway, ¹⁹Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ²⁰Division of Rheumatology, University of Toronto, Toronto, ON, Canada, ²¹Department of Biostatistics, University of South Florida, Tampa, FL, ²²Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH, ²³Division of Rheumatology, St. Joseph’s Hospital, McMaster University, Hamilton, ON, Canada, ²⁴Division of Rheumatology, University of Utah, Salt Lake City, UT, ²⁵Center for Vasculitis Care and Research, Cleveland Clinic, Cleveland, OH, ²⁶Division of Rheumatology, Vasculitis Center, University of Pennsylvania, Philadelphia, PA, ²⁷Rheumatology & Clinical Immunology, Vasculitis Center, of University of Pittsburgh Medical Center, Pittsburgh, PA, ²⁸Section of Rheumatology, Vasculitis Center, Boston University School of Medicine, Boston, MA, ²⁹Rheumatology Division, Johns Hopkins Vasculitis Center, Johns Hopkins University, Baltimore, MD, ³⁰Medicine/Division of Rheumatology, The University of Pennsylvania, Philadelphia, PA, ³¹Division of Rheumatology, Mayo Clinic, Rochester, MN, ³²Department of Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom, ³³Department of Rheumatology, Harrogate and District Foundation Trust, Harrogate, United Kingdom, ³⁴Department of Rheumatology, York Teaching Hospital NHS Foundation Trust, York, United Kingdom, ³⁵Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Dewsbury, United Kingdom, ³⁶Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Wakefield, United Kingdom, ³⁷Department of Rheumatology, Ipswich Hospital NHS Trust, Ipswich, United Kingdom, ³⁸Department of Rheumatology, Croydon Health Service NHS Trust, Croydon, United Kingdom, ³⁹Department of Rheumatology, Hull and East Yorkshire NHS Trust, Hull East Yorkshire, United Kingdom, ⁴⁰Department of Rheumatology, Staffordshire and Stoke-on-Trent Partnership NHS Trust, Staffordshire, United Kingdom, ⁴¹Department of Rheumatology, Southend University Hospital, Essex, United Kingdom, ⁴²Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ⁴³Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy, ⁴⁴University of Pennsylvania, Philadelphia, PA
Background/Purpose: Giant cell arteritis (GCA) is a chronic autoimmune vasculitis with an important genetic component. We aimed to identify relevant risk loci for GCA predisposition…
Abstract Number: 2961 • 2014 ACR/ARHP Annual Meeting
Conditional Analysis of 30 Serum Urate Loci Identifies 25 Additional Independent Effects
Eli Stahl¹, Hyon K. Choi², Murray Cadzow³, Tanya Flynn³, Ruth Topless⁴ and Tony R. Merriman⁴, ¹Mt Sinai School of Medicine, New York City, NY, ²Division of Rheumatology, Allergy, and Immunology Massachusetts General Hospital, Harvard Medical School, Boston, MA, ³University of Otago, Dunedin, New Zealand, ⁴Department of Biochemistry, University of Otago, Dunedin, New Zealand
Background/Purpose: Single variants in 30 genetic loci have been associated with serum urate levels in Europeans by meta-analysis of summary statistics of 48 individual genome-wide…
Abstract Number: 765 • 2014 ACR/ARHP Annual Meeting
Gene-Gene Interaction of IRF5 and BLK Polymorphisms in US and Spanish Cohorts of Systemic Sclerosis (SSc)
Pravitt Gourh¹, Yoonhee Kim², Sandeep K. Agarwal³, Filemon K. Tan⁴, Shervin Assassi⁴, Javier Martin⁵, Frank C. Arnett⁴ and Maureen D Mayes⁴, ¹NIAMS-Rheumatology, National Institutes of Health, Bethesda, MD, ²NIH, Bethesda, MD, ³Medicine, Section of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, ⁴Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁵Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain
Background/Purpose Systemic sclerosis (SSc) is a complex autoimmune disease and several genetic loci increasing SSc susceptibility have been identified with small to modest effect sizes.…
Abstract Number: 2953 • 2014 ACR/ARHP Annual Meeting
International Immunochip Study in the Idiopathic Inflammatory Myopathies Identifies Novel Susceptibility Loci and Confirms HLA As Strongest Genetic Risk Factor
Simon Rothwell¹, Robert G. Cooper², Ingrid E. Lundberg³, Frederick W. Miller⁴, Peter K. Gregersen⁵, Jiri Vencovsky⁶, Katalin Danko⁷, Lucy R Wedderburn⁸, Vidya Limaye⁹, Albert Selva O'Callaghan¹⁰, Michael G. Hanna¹¹, Pedro Machado¹¹, Lauren M. Pachman¹², Ann M. Reed¹³, Lisa G. Rider⁴, Joanna Cobb¹, Hazel Platt¹⁴, Øyvind Molberg¹⁵, Olivier Benveniste¹⁶, Pernille Mathiesen¹⁷, Timothy Radstake¹⁸, Andrea Doria¹⁹, Jan De Bleecker²⁰, Boel De Paepe²¹, Britta Maurer²², William E. Ollier¹⁴, Leonid Padyukov³, Terrance P. O'Hanlon⁴, Annette Lee²³, Hector Chinoy¹ and Janine Lamb¹⁴, ¹Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, United Kingdom, ²MRC/ARUK Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom, ³Rheumatology Unit, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, ⁴Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ⁵The Feinstein Institute for Medical Research, Manhasset, NY, ⁶Institute of Rheumatology and Department of Rheumatology, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, ⁷University of Debrecen, University of Debrecen, Debrecan, Hungary, ⁸Rheumatology Unit, Arthritis Research UK Centre for Adolescent Rheumatology, University College London, London, United Kingdom, ⁹Royal Adelaide Hospital, Adelaide, Australia, ¹⁰Vall d'Hebron General Hospital, Barcelona, Spain, ¹¹MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom, ¹²Cure JM Myositis Center, Ann & Robert H. Lurie Children's Hospital of Chicago Research Center, Chicago, IL, ¹³Rheumatology, Mayo Clinic, Rochester, MN, ¹⁴Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, United Kingdom, ¹⁵Department of Rheumatology, Oslo University Hospital Rikshospitalet, Oslo, Norway, ¹⁶Internal Medecine Dpt 1, Pitié-Salpêtrière Hospital, APHP, Paris, France, ¹⁷Paediatric Department, Holbaek University Hospital, Holbaek, Denmark, ¹⁸University Medical Center Utrecht, Utrecht, Netherlands, ¹⁹Department of Medicine - DIMED, University of Padova, Padova, Italy, ²⁰University of Ghent, Ghent, Belgium, ²¹Neuromuscular Reference Center, University of Ghent, Ghent, Belgium, ²²Division of Rheumatology, University Hospital Zurich, Zurich, Switzerland, ²³Genomics & Human Genetics, Feinstein Institute Med Rsch, Manhasset, NY
Background/Purpose: The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes…
Abstract Number: 625 • 2014 ACR/ARHP Annual Meeting
Fine-Mapping Major Histocompatibility Complex Associations Identified Contribution of Multiple Class I and II HLA Genes on Risk of Psoriasis and Its Clinical Subtypes
Yukinori Okada¹, Buhm Han², Lam C. Tsoi³, Philip E. Stuart⁴, Eva Ellinghaus⁵, Trilokraj Tejasvi⁶, Vinod Chandran⁷, Fawnda Pellett⁸, Remy Pollock⁹, Anne M. Bowcock¹⁰, Gerald G. Krueger¹¹, Michael Weichenthal⁵, John J. Voorhees⁶, Proton Rahman¹², Peter K. Gregersen¹³, Andre Franke¹⁴, Rajan P. Nair⁶, Gonçalo R. Abecasis¹⁵, Dafna D. Gladman⁷, James T. Elder⁶, Paul IW. de Bakker¹⁶ and Soumya Raychaudhuri¹⁷, ¹Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, ²Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, ³Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, ⁴Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, ⁵Christian-Albrechts-University of Kiel, Kiel, Germany, ⁶University of Michigan Medical School, Ann Arbor, MI, ⁷University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁸University of Toronto, Toronto, ON, Canada, ⁹Rheumatology, University of Toronto, Toronto, ON, Canada, ¹⁰Imperial College, London, United Kingdom, ¹¹Dermatology, University of Utah, Salt Lake City, UT, ¹²Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, ¹³The Feinstein Institute for Medical Research, Manhasset, NY, ¹⁴Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany, ¹⁵University of Michigan, Ann Arbor, MI, ¹⁶University Medical Center, Utrecht, Netherlands, ¹⁷Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Psoriasis vulgaris (PsV) risk is strongly associated with genetic variation within the major histocompatibility complex (MHC) region, although its fine genetic architecture has not…
Abstract Number: 2918 • 2014 ACR/ARHP Annual Meeting
Fine-Mapping Major Histocompatibility Complex Associations in ACPA-Positive Rheumatoid Arthritis Identified Shared HLA Amino Acid Polymorphisms in Asian and European Populations
Yukinori Okada¹, Kwangwoo Kim², Buhm Han³, Nisha E. Pillai⁴, Rick T-H. Ong⁴, Woei-Yuh Saw⁴, Ma Luo⁵, Lei Jiang⁶, Jian Yin⁶, So-Young Bang⁷, Hye-Soon Lee⁷, Matthew A. Brown⁸, Sang-Cheol Bae², Huji Xu⁹, Yik-Ying Teo⁴, Paul IW. de Bakker¹⁰ and Soumya Raychaudhuri³, ¹Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, ²Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ³Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁴National University of Singapore, Singapore, Singapore, ⁵University of Manitoba, Winnipeg, MB, Canada, ⁶The Second Military Medical University, Shanghai, China, ⁷Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea, ⁸University of Queensland Diamantina Institute, Brisbane, Australia, ⁹Shanghai Changzheng Hospital, Shanghai, China, ¹⁰Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Rheumatoid arthritis (RA) risk is strongly associated with variations within the major histocompatibility complex (MHC) region, and in particular to HLA-DRB1 alleles. We aimed…
Abstract Number: 87 • 2014 ACR/ARHP Annual Meeting
Association of TRIM21 (RO52) Polymorphisms with Systemic Lupus Erythematosus in a Japanese Population
Misaki Hidaka¹, Aya Kawasaki¹, Hiroshi Furukawa², Yuya Kondo³, Satoshi Ito⁴, Isao Matsumoto⁵, Makio Kusaoi⁶, Hirofumi Amano⁶, Akiko Suda⁷, Keigo Setoguchi⁸, Tatsuo Nagai⁹, Kota Shimada¹⁰, Shoji Sugii¹⁰, Akira Okamoto¹¹, Noriyuki Chiba¹², Eiichi Suematsu¹³, Masao Katayama¹⁴, Akiko Okamoto¹⁵, Hajime Kono¹⁵, Shigeru Ohno⁷, Shunsei Hirohata¹⁶, Shouhei Nagaoka¹⁷, Yoshinari Takasaki¹⁸, Hiroshi Hashimoto¹⁹, Shigeto Tohma², Takayuki Sumida³ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ³Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁴Department of Rheumatology, Niigata Rheumatic Center, Shibata, Japan, ⁵Department of Interenal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Department of Rheumatology and Internal Medicine, Juntendo University, Tokyo, Japan, ⁷Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, ⁸Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ⁹Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁰Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ¹¹Department of Rheumatology,, Himeji Medical Center, National Hospital Organization, Himeji, Japan, ¹²Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, ¹³Department of Internal Medicine and Rheumatology, Clinical Research Institute, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, ¹⁴Division of Rheumatology, Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya City, Aichi, Japan, ¹⁵Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, ¹⁶Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁷Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ¹⁸Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, ¹⁹Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose TRIM21, also referred to as Ro52 or SS-A1, belongs to the tripartite motif-containing (TRIM) family. TRIM21 is not only important as an autoantigen, but…

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