Abstracts tagged "genetics"

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: 2420 • 2016 ACR/ARHP Annual Meeting
Investigating Genome-Wide Inbreeding Coefficients and Age of Diagnosis in a Multi-Ethnic Population of Childhood-Onset Systemic Lupus Erythematosus (cSLE)
Chen Di Liao¹, Deanna Morra¹, Daniela Dominguez¹, Shazia Ali¹, Deborah M. Levy², Earl Silverman³, Andrew Paterson¹ and Linda T Hiraki¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ³University of Toronto, Toronto, ON, Canada
Background/Purpose: Genetics plays an important role in the pathogenesis of systemic lupus erythematosus (SLE). Up to 20% of those affected with SLE are diagnosed in…
Abstract Number: 3098 • 2016 ACR/ARHP Annual Meeting
The Occurrence of Peripheral Arthritis Mutilans in Psoriatic Arthritis Is Associated with Certain Major Histocompatibility Class I Alleles
Jon T. Giles¹, Deepak R. Jadon², Muhammad Haroon³, Jing Bi⁴, Eleanor Korendowych², William Tillett², Oliver FitzGerald⁵, Robert Winchester⁴ and Neil J. McHugh², ¹Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ²Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ³St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland, ⁴Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ⁵St. Vincent's University Hospital, Department of Rheumatology. UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland
Background/Purpose: Several human leukocyte antigen (HLA) Class I loci encoding the major histocompatibility complex (MHC) have been implicated both in psoriatic arthritis (PsA) susceptibility and…
Abstract Number: 3122 • 2016 ACR/ARHP Annual Meeting
Genome-Wide DNA Methylation Association Study of Hand Osteoarthritis
Michelle S. Yau^1,2, Roby Joehanes³, Yi-Hsiang Hsu³, Douglas P. Kiel⁴ and David T. Felson⁵, ¹Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, ²Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, MA, ³Hebrew SeniorLife, Harvard Medical School, Boston, MA, ⁴Institute for Aging Research, Institute for Aging Research, Hebrew Senior Life, Harvard Medical School, Boston, MA, USA, Boston, MA, ⁵Arthritis Research UK Centre for Epidemiology, Institute of Inflammation and Repair, University of Manchester, Manchester, United Kingdom
Background/Purpose: Heritability of hand osteoarthritis (OA) has been estimated to be as high as 65%. Despite having a strong genetic component, genome-wide linkage and association…
Abstract Number: 71 • 2016 ACR/ARHP Annual Meeting
A Rare Coding Allele in IFIH1 is Protective for Psoriatic Arthritis
Ashley Budu-Aggrey^1,2, John Bowes², Philip E. Stuart³, Matthew Zawistowski⁴, Lam C. Tsoi⁴, Rajan P. Nair⁵, Eleanor Korendowych⁶, Neil J McHugh⁶, James T. Elder⁵, Anne Barton^1,7,8 and Soumya Raychaudhuri⁹, ¹NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK, Manchester, United Kingdom, ³Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, ⁴Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, ⁵University of Michigan Medical School, Ann Arbor, MI, ⁶Royal National Hospital for Rheumatic Diseases and Dept Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁷Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁸The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, United Kingdom, ⁹Brigham and Women's Hospital, Boston, MA
Background/Purpose: Psoriatic Arthritis (PsA) is an inflammatory arthritis associated with psoriasis estimated to present in approximately 14% of psoriasis patients in the UK. As a…
Abstract Number: 3161 • 2016 ACR/ARHP Annual Meeting
The Association Between HLA Genetic Susceptibility Markers and Sonographic Enthesitis in Psoriatic Arthritis
Ari Polachek¹, Richard J. Cook², Vinod Chandran¹, Fatima Abji¹, Dafna D Gladman³ and Lihi Eder⁴, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, ³University of Toronto, Toronto, ON, Canada, ⁴Rheumatology, University of Toronto, Women's College Hospital, Toronto, ON, Canada
Background/Purpose: Enthesitis is an important pathophysiologic component in psoriatic arthritis (PsA). Ultrasound is emerging as an optimal method to evaluate enthesitis. HLA genes are implicated…
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…
Abstract Number: 1402 • 2015 ACR/ARHP Annual Meeting
Development of Systemic Juvenile Idiopathic Arthritis Manifestations Following Remission of Hemophagocytic Lymphohistiocytosis
Baruch Goldberg¹, Eyal Muscal², Marietta De Guzman³ and Carl Allen⁴, ¹Pediatric Rheumatology, Texas Children's Hospital, Houston, TX, ²Pediatric Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ³Pediatric Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ⁴Pediatric Hematology and Oncology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal pathologic inflammatory process resulting from impaired immune function due to inherited gene mutations or secondary to…
Abstract Number: 1632 • 2015 ACR/ARHP Annual Meeting
Do RA Susceptibility Loci Predict Response to Methotrexate As First DMARD in Early RA?
Thomas Frisell¹, Saedis Saevarsdottir^2,3 and Johan Askling^1,4, ¹Clinical Epidemiology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden, ²Rheumatology Unit, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ³Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ⁴Rheumatology Unit, Karolinska University Hospital, Stockholm, Sweden
Background/Purpose: Improved means to predict which RA patients will respond to methotrexate monotherapy, the preferred first line therapy in early RA, would allow patients to…
Abstract Number: 1929 • 2015 ACR/ARHP Annual Meeting
Somatic Mutations in Clonally Expanded Cytotoxic Lymphocytes in Patients with Newly Diagnosed Rheumatoid Arthritis
Paula Savola¹, Tiina Kelkka¹, Hanna Rajala¹, Antti Kuuliala², Krista Kuuliala², Samuli Eldfors³, Pekka Ellonen³, Sonja Lagstrom³, Rajiv Kumar Khajuria¹, Taina Jaatinen⁴, Riitta Koivuniemi⁵, Heikki Repo², Janna Saarela³, Kimmo Porkka¹, Marjatta Leirisalo-Repo⁶ and Satu Mustjoki¹, ¹Department of Hematology, Hematology Research Unit Helsinki, University of Helsinki, Comprehensive Cancer Center, Helsinki University Hospital, Helsinki, Finland, ²Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Helsinki, Finland, ³Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, ⁴Clinical Laboratory, Finnish Red Cross Blood Service, Helsinki, Finland, ⁵Department of Medicine, Division of Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ⁶Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Background/Purpose: In rheumatoid arthritis (RA), the mechanisms initiating immune dysregulation leading to joint damage are incompletely understood. Previous studies show that large CD8+ T cell…
Abstract Number: 2101 • 2015 ACR/ARHP Annual Meeting
HLA Associations in Mothers of Children with Cardiac Manifestations of Neonatal Lupus
Hannah C. Ainsworth¹, Carl D. Langefeld¹, Miranda C. Marion², Nathalie Costedoat-Chalumeau³, Antonio Brucato⁴, Jill P. Buyon⁵ and Robert M. Clancy⁵, ¹Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ²Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University Health Sciences, Winston-Salem, NC, ³Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁴Internal Medicine, Hospital Papa Giovanni XXIII, Bergamo, Italy, ⁵Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY
Background/Purpose: Cardiac manifestations of neonatal lupus, comprising atrioventricular conduction defects and cardiomyopathy, occur in fetuses exposed to anti-Ro/SSA antibodies, and carry substantial mortality. There is…
Abstract Number: 2702 • 2015 ACR/ARHP Annual Meeting
Immunophenotyping of Rheumatoid Arthritis Reveals the Linkage Between HLA-DRB1 Genotype, CXCR4 Expressions on Memory CD4+ T Cells, and Disease Activity
Yasuo Nagafuchi¹, Hirofumi Shoda¹, Shuji Sumitomo¹, Shinichiro Nakachi¹, Rika Kato², Yumi Tsuchida², Haruka Tsuchiya², Keiichi Sakurai², Norio Hanata², Shoko Tateishi², Hiroko Kanda², Keishi Fujio¹ and Kazuhiko Yamamoto¹, ¹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Background/Purpose: The HLA-DRB1 is the strongest genetic risk factor for rheumatoid arthritis (RA). Although this fact suggests a pivotal role for adaptive immunity in RA,…

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