ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 1573 • 2016 ACR/ARHP Annual Meeting

    Major Histocompatibility Antigen HLA-DQ6.1 (DQA1*0103/DQB1*0601) Increases Rheumatoid Arthritis Risk Independent of Shared Epitope Among Indians

    Able Lawrence1, Swayam Prakash2, Uddalak Bharadwaj3, Amita Aggarwal4, Ramnath Misra4 and Suraksha Agrawal2, 1Clinical Immunology, SGPGIMS, Lucknow, India, 2Medical Genetics, SGPGIMS, Lucknow, India, 3MD Anderson Cancer Center, Houston, TX, 4Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    Background/Purpose: The association of HLA-DRB1 shared epitope (SE) with rheumatoid arthritis (RA) does not completely explain MHC association. The HLA-DRB1 alleles are classified into high…
  • Abstract Number: 2032 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci

    Laura A McIntosh1, Miranda C Marion2, Marc Sudman1, Mary E Comeau2, Sampath Prahalad3, John F. Bohnsack4, Johannes P Haas5, Carol A Wallace6, Daniel J Lovell7, Thomas A Griffin8, Mara L Becker9, Peter A Nigrovic10,11, Marilynn Punaro12, Carlos D Rosé13, Carol A Wise14, Halima Moncrieffe15, Timothy D Howard16, Carl D Langefeld17, Susan D Thompson15,18 and Boston Children’s JIA Registry, JIA gene expression studies, NIAMS JIA genetic registry, TREAT study, Understanding TNF Therapy in JIA Project, 1Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, 3Pediatrics, Emory Children's Center, Atlanta, GA, 4Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT, 5German Centre for Rheumatology in Children and Young People, Garmisch-Partenkirchen, Germany, 6Pediatrics, Seattle Children's Hospital, Seattle, WA, 7Rheumatology, PRCSG Cincinnati Children's Hospital Medical Center, Cinncinnati, OH, 8Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC, 9Rheumatology, Children's Mercy Kansas City, Kansas City, MO, 10Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Boston, MA, 11Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 12Pediatric Rheumatology, Texas Scottish Rite Hospital for Children, Dallas, TX, 13Pediatrics, Division of Rheumatology, Nemours/A.I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, DE, 14Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, 15Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 16Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC, 17Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, 18Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease, affecting approximately 1 in 1,000 children. JIA is a complex genetic trait and…
  • Abstract Number: 2033 • 2016 ACR/ARHP Annual Meeting

    A Multi-Dimensional Genomic Map for Polyarticular Juvenile Idiopathic Arthritis

    James Jarvis1, Lisha Zhu2, Kaiyu Jiang3, Michael Buck2, Yanmin Chen3, Halima Moncrieffe4, Laura Brungs4, Tao Liu5 and Ting Wang6, 1Pediatrics, SUNY Buffalo School of Medicine, Buffalo, NY, 2Biochemistry, University at Buffalo, Buffalo, NY, 3Pediatrics, University at Buffalo, Buffalo, NY, 4Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5Department of Biochemistry, University at Buffalo, Buffalo, NY, 6Genetics, Washington University School of Medicine, St. Louis, MO

    Background/Purpose: Polyarticular juvenile idiopathic arthritis (JIA) is a complex trait characterized by gene-environment interactions. While we are beginning to identify multiple genomic regions associated with…
  • Abstract Number: 2035 • 2016 ACR/ARHP Annual Meeting

    Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis

    Yukinori Okada1, Akari Suzuki2, Katsunori Ikari3, Chikashi Terao4, Yuta Kochi2, Koichiro Ohmura5, Koichiro Higasa5, Masato Akiyama2, Kyoto Ashikawa2, Masahiro Kanai2, Jun Hirata1, Naomasa Suita1, Yik-Ying Teo6, Huji Xu7, Sang-Cheol Bae8, Yukihide Momozawa2, koichi Matsuda9, Shigeki Momohara10, Atsuo Taniguchi10, Ryo Yamada5, Tsuneyo Mimori5, Michiaki Kubo2, Matthew A. Brown11, Soumya Raychaudhuri12, Fumihiko Matsuda5, Hisashi Yamanaka10, Yoichiro Kamatani2 and Kazuhiko Yamamoto9, 1Osaka University, Osaka, Japan, 2Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 3Inst of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 4Departments of Genetics and Rheumatology, Brigham and Women'’s Hospital, Harvard Medical School, Boston, MA, 5Kyoto University Graduate School of Medicine, Kyoto, Japan, 6Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore, 7The Second Military Medical University, Shanghai, Japan, 8Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, The Republic of, 9The University of Tokyo, Tokyo, Japan, 10Tokyo Women's Medical University, Tokyo, Japan, 11The University of Queensland Diamantina Institute, Brisbane, Australia, 12Brigham and Women's Hospital, Boston, MA

    Background/Purpose: Despite the progress in human leukocyte antigen (HLA) causal variant mapping, independent localization of major histocompatibility complex (MHC) risk from classical HLA genes is…
  • Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Study of Gout in New Zealand Polynesian People

    Tanya Flynn1, Ruth Topless1, Murray Cadzow1, Amanda Phipps-Green1, Nick Burns1, Nicola Dalbeth2, Lisa K. Stamp3, Jennie Harre Hindmarsh4 and Tony R. Merriman5, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago, Christchurch, New Zealand, 4Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 5Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…
  • Abstract Number: 2276 • 2016 ACR/ARHP Annual Meeting

    Pleiotropic Effect of ABCG2 in Gout

    Tony R. Merriman1, Amanda Phipps-Green2, James Boocock2, Philip Riches3, Anne-Kathrin Tausche4, Timothy Radstake5, Matthijs Janssen6, Leo .A.B. Joosten7, Tim L Jansen8, Alexander So9, Jennie Harre Hindmarsh10, Lisa K. Stamp11, Nicola Dalbeth12 and Rebekah Wrigley2, 1Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, 2University of Otago, Dunedin, New Zealand, 3University of Edinburgh, Edinburgh, United Kingdom, 4Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, 5Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, 7Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 8Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands, 9Rheumatology Department, Lausanne University Hospital, Switzerland, Lausanne, Switzerland, 10Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 11University of Otago, Christchurch, New Zealand, 12University of Auckland, Auckland, New Zealand

    Background/Purpose: The ABCG2 Q141K (rs2231142) variant is an established cause of hyperuricaemia in Europeans. Although the effect size of ABCG2 rs2231142 on serum urate levels…
  • Abstract Number: 2277 • 2016 ACR/ARHP Annual Meeting

    Exon Sequencing Reveals a Significant Burden of Non-Synonymous Variants in Both SLC22A11 (OAT4) and SLC22A12 (URAT1) in European Hyperuricemic Individuals

    Tanya Flynn1, James Boocock1, Murray Cadzow1, Ruth Topless1, Amanda Phipps-Green1, Nicola Dalbeth2, Lisa K. Stamp3, David B. Mount4, Asim Mandal4, Hyon K. Choi5, Eli A. Stahl6 and Tony R. Merriman7, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago, Christchurch, New Zealand, 4Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 5Rheumatology, Allergy and Immunology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 6Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, 7Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: Common variants within the uric acid transporter genes SLC22A11 (OAT4) and SLC22A12 (URAT1) have been associated with hyperuricaemia and gout in multiple populations, but…
  • Abstract Number: 3225 • 2015 ACR/ARHP Annual Meeting

    Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet’s Disease

    Mikhail Ognenovski1, Paul Renauer1, Ina Koetter2, Joerg C. Henes3, Bruno Casali4, Carlo Salvarani5, Haner Direskeneli6, Kenneth M. Kaufman7 and Amr H. Sawalha1, 1Division of Rheumatology, University of Michigan, Ann Arbor, MI, 2Internal Medicine IV Rheumatology, Asklepios Klinik Altona, Hamburg, Germany, 3Department of Internal Medicine II, Rheumatology Division, University Hospital Tuebingen, Tuebingen, Germany, 4Divisione di Biologia Molecolare, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy, 5Rheumatology, Arcispedale S.Maria Nuova, Reggio Emilia, Italy, 6Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, 7Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Behcet’s disease (BD) is a systemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other organ complications such as…
  • Abstract Number: 3227 • 2015 ACR/ARHP Annual Meeting

    Identification of Novel Protein-Coding Genetic Variants Associated with Takayasu Arteritis

    Paul Renauer1, Patrick Coit1, Peter A. Merkel2 and Amr H. Sawalha1, 1Division of Rheumatology, University of Michigan, Ann Arbor, MI, 2Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA

    Background/Purpose: Takayasu arteritis is a rare large vessel vasculitis of unclear etiology. Previous studies identified associations between Takayasu arteritis and genetic variants within HLA class…
  • Abstract Number: 93 • 2015 ACR/ARHP Annual Meeting

    An HLA-C Amino Acid Variant in Addition to HLA-B*27 Confers Risk for Ankylosing Spondylitis in the Korean Population

    Kwangwoo Kim1, So-Young Bang2, Seunghun Lee3, Hye-Soon Lee2, Seung-Cheol Shim4, Young Mo Kang5, Chang-Hee Suh6, Celi Sun7, Swapan Nath7, Sang-Cheol Bae2 and Tae-Hwan Kim2, 1Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 2Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 3Department of Radiology, Hanyang University College of Medicine, Seoul Hospital, Seoul, South Korea, 4Division of Rheumatology, Daejeon Rheumatoid and Degenerative Arthritis Center, Chungnam National University, Daejeon, South Korea, 5Dept of Internal Medicine, Kyungpook National University School of Medicine, Daegu, South Korea, 6Allergy-Rheumatology, Ajou University School of Medicine, Suwon, South Korea, 7Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: Ankylosing spondylitis (AS) is a highly heritable rheumatic disease causing chronic inflammation of axial spine, joints and various organs. The presence of HLA-B*27 is…
  • Abstract Number: 3248 • 2015 ACR/ARHP Annual Meeting

    Which Factors Explain Multi-Site Pain Caused By Obesity: A 5-Year Follow-up Study in Older Adults?

    Feng Pan1, Laura Laslett2, Russell Thomson2, Tania Winzenberg3, Flavia Cicuttini4, Changhai Ding5 and Graeme Jones5, 1Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, 2Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, 3Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, 4Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia, 5Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia

    Background/Purpose: Joint pain is common in older adults; typically multiple joints are involved.  Obesity is an important risk factor in pathogenesis of multi-site joint pain…
  • Abstract Number: 99 • 2015 ACR/ARHP Annual Meeting

    Personalised Genetic Medicine: HLA-DRB1 Amino Acid Positions 11, 71 and 74 Predict Inflammation Level, Disease Activity and Disability in Rheumatoid Arthritis

    Stephanie Ling1, Sebastien Viatte2, Mark Lunt3, Alper van Sijl4, Lucía Silva Fernández4,5, Soumya Raychaudhuri2,6,7, Deborah P.M. Symmons4,8, Adam Young9,10, Alex J Macgregor11 and Anne Barton12, 1Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Mancheser Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 2Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 3Manchester Academic Health Sciences Centre, Arthritis Research UK Centre for Epidemiology, The University of Manchester, Manchester, United Kingdom, 4Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 5Rheumatology, Complexo Hospitalario Universitario de Ferrol, Ferrol, Spain, 6Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 7Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, 8Centre for Musculoskeletal Research, University of Manchester, Arthritis Research UK Centre for Epidemiology, Manchester, United Kingdom, 9Rheumatology, ERAS, St Albans City Hospital, St Albans, United Kingdom, 10School of Life & Medical Sciences, University of Hertfordshire, Hatfield, United Kingdom, 11School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, United Kingdom, 12Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom

    Background/Purpose: Amino acid (AA) positions 11, 71 and 74 inside HLA-DRB1 confer susceptibility to rheumatoid arthritis (RA). AAs from these positions form 16 haplotypes, hierarchically…
  • Abstract Number: 109 • 2015 ACR/ARHP Annual Meeting

    Association of HLA-G and Leukocyte Immunoglobulin-like Receptor A3 Polymorphisms with the Susceptibility to Pulmonary Hyterpention in Systemic Sclerosis

    Yuki Hachiya1, Aya Kawasaki1, Takashi Matsushita2, Hiroshi Furukawa1, Shouhei Nagaoka3, Kota Shimada4, Shoji Sugii4, Keigo Setoguchi5, Akira Okamoto6, Noriyuki Chiba7, Eiichi Suematsu8, Masao Katayama9, Shunsei Hirohata10, Hajime Kono11, Kiyoshi Migita12, Takayuki Sumida13, Shigeto Tohma14, Minoru Hasegawa15, Manabu Fujimoto16, Shinichi Sato17, Kazuhiko Takehara18 and Naoyuki Tsuchiya19, 1Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 2Department of Dermatology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa city, Japan, 3Rheumatology, Yokohama Minami Kyosai Hospital, Yokohama, Japan, 4Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Fuchu, Japan, 5Department of Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, 6Department of Rheumatology,, Himeji Medical Center, National Hospital Organization, Himeji, Japan, 7Department of Rheumatology, Morioka National Hospital, NHO, Iwate, Japan, 8Department of Internal Medicine and Rheumatology, National Hospital Organization, Kyushu Medical Research Center, Fukuoka, Japan, 9Division of Rheumatology, Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya City, Aichi, Japan, 10Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Kanagawa, Japan, 11Department of Internal Medicine, Teikyo University, Tokyo, Japan, 12Department of Rheumatology and Clinical Research Center, Nagasaki Medical Center, Omura, Japan, 13Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 14Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, 15Dermatology, Faculty of Medical Sciences, University of Fukui, Fukui, Japan, 16Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 17Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan, 18Dermatology, Department of Dermatology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa city, Japan, 19Faculty of Medicine, University of Tsukuba, Tsukuba, Japan

    Background/Purpose: Human leukocyte antigen-G (HLA-G) is a non-classical class I molecule expressed in the immune cells, the spleen, and the lungs, and plays a key…
  • Abstract Number: 513 • 2015 ACR/ARHP Annual Meeting

    Cumulative Association of Genetic Variants with Rheumatoid Joint Damage Progression in Mexican Americans and European Americans

    Rector Arya1, Inmaculada del Rincon2, Jose Felix Restrepo3, Vidya S Farook4, Christopher P Jenkinson5, Ravindranath Duggirala6 and Agustin Escalante7, 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, 3Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, 4Genetics, Texas Biomedical Research Institute, San Antonio, TX, 5University of Texas Health Science Center at San Antonio, San Antonio, TX, 6Regional Academic Health Center, Harlingen, TX, 7Dept. of Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX

    Background/Purpose: Genealogical and genetic association studies have suggested that joint damage in rheumatoid arthritis (RA) may be heritable. We and others have found a number…
  • Abstract Number: 1210 • 2015 ACR/ARHP Annual Meeting

    Genetic, Environmental, and Serologic Risk Factors for Inflammatory Joint Signs Among First-Degree Relatives without Rheumatoid Arthritis in a Prospective Cohort

    Jeffrey A. Sparks1, Shun-Chiao Chang2, Kevin D. Deane3, Ryan W. Gan4, Kristen Demoruelle3, Marie L. Feser3, LauraKay Moss3, Jane H. Buckner5, Richard M. Keating6, Karen H. Costenbader7, Peter K. Gregersen8, Michael H. Weisman9, Ted R. Mikuls10, James R. O'Dell10, V. Michael Holers3, Jill M. Norris4 and Elizabeth W. Karlson2, 1Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 2Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 3Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 4Epidemiology, Colorado School of Public Health, Aurora, CO, 5Benaroya Research Institute at Virginia Mason, Seattle, WA, 6Division of Rheumatology, Scripps Health, La Jolla, CA, 7Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 8Feinstein Insititute for Medical Research, Manhasset, NY, 9Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, 10Veteran Affairs Nebraska-Western Iowa Health Care System and University of Nebraska Medical Center, Omaha, NE

    Background/Purpose: Family history of RA in a first-degree relative increases RA risk 4-fold. Determining risk factors for inflammatory joint signs (IJS) in this high risk…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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