Abstracts tagged "genetics"

Abstract Number: 2341 • 2017 ACR/ARHP Annual Meeting
The Interaction between Genetic Risk Factors and Age of Disease Onset in Juvenile Dermatomyositis
Claire Deakin¹, John Bowes², Lucy Marshall¹, Cerise Johnson¹, Gulnara Mamyrova³, Rodolfo Curiel⁴, Kelly A. Rouster-Stevens⁵, Heinrike Schmeling⁶, Adam Huber⁷, Brian M. Feldman⁸, Ann M Reed⁹, Lauren M. Pachman¹⁰, Soumya Raychaudhuri¹¹, Stephen Eyre¹² and Lucy R Wedderburn¹, ¹Infection, Immunity and Inflammation Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom, ²Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ³Rheumatology, George Washington University School of Medicine and Health Sciences, Washington, DC, ⁴Department of Rheumatology, George Washington University, Washington, DC, ⁵Pediatric Rheumatology, Emory Children's Center, Atlanta, GA, ⁶Alberta Children’s Hospital/University of Calgary, Calgary, AB, Canada, ⁷IWK Health Centre, Halifax, NS, Canada, ⁸Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁹Rheumatology, Duke University, Durham, NC, ¹⁰Cure JM Program of Excellence in Juvenile Myositis Research, Stanley Manne Children’s Research Institute, affiliated with Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ¹¹Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ¹²Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom
Background/Purpose: Juvenile dermatomyositis (JDM) is a rare, severe autoimmune disease characterized by muscle weakness and rash. Clinical features of JDM are heterogeneous, and can include…
Abstract Number: 164 • 2017 ACR/ARHP Annual Meeting
Association of Natural Killer Cell Ligand Polymorphism, HLA-C Asn80Lys, with the Development of Anti-SSA/Ro Associated Congenital Heart Block
Hannah C. Ainsworth¹, Miranda C Marion¹, Antonio Brucato², Nathalie Costedoat-Chalumeau³, Tiziana Bertero⁴, Rolando Cimaz⁵, Micaela Fredi⁶, Patrick M. Gaffney⁷, Jennifer A. Kelly⁷, Kateri Levesque⁸, Alice Maltret⁸, Nathalie Morel⁸, Véronique Ramoni⁹, Amelia Ruffatti¹⁰, Carl D Langefeld¹, Jill P. Buyon¹¹ and Robert M Clancy¹¹, ¹Wake Forest University, Winston Salem, NC, ²Ospedale Papa Giovanni XXIII, Bergamo, Italy, ³Service de médecine interne Pôle médecine, Hôpital Cochin, Centre de référence maladies auto-immunes et systémiques rares de l’île de France, Paris, France, ⁴Ospedale Mauriziano, Torino, Italy, ⁵Department of Paediatrics, University of Florence and Anna Meyer Children's Hospital, Florence, Italy, Florence, Italy, ⁶Department of Rheumatology and Clinical Immunology, Rheumatology and Clinical Immunology, Rheumatology and Clinical Immunology, Spedali Civili of Brescia, Brescia, Italy, ⁷Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁸Université Paris Descartes-Sorbonne Paris Cité, Paris, France, ⁹Ospedale Papa Giovanni XXIII of Bergamo, Policlinico San Matteo of Pavia, Bergamo, Pavia, Italy, ¹⁰Unità di Reumatologia, Dipartimento di Medicina-DIMED, Università di Padova., Padova, Italy, ¹¹NYU Langone Medical Center, New York, NY
Background/Purpose: Fetal exposure to maternal anti-SSA/Ro antibodies is necessary but insufficient for the development of congenital heart block (CHB), suggesting the potential of a fetal…
Abstract Number: 2825 • 2017 ACR/ARHP Annual Meeting
A Possible Environmental Origin for a Proportion of the Genetic Risk of Rheumatoid Arthritis and Systemic Lupus Erythematosus
John B. Harley¹, Xiaoting Chen¹, Mario Pujato², Daniel Miller¹, Avery Maddox¹, Carmy Forney³, Albert Magnusen³, Arthur Lynch¹, Kashish Chetal⁴, Masashi Yukawa⁵, Artem Barski⁶, Nathan Salomonis⁴, Kenneth Kaufman⁷, Leah C. Kottyan⁸ and Matthew Weirauch⁹, ¹Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Center of Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ³Center of Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Divisions of Allergy and Immunology and Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁶Divisions of Allergy and Immunology and Bioinformatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁸Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁹Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Nearly 150 genetic loci are convincingly associated with lupus (SLE) or rheumatoid arthritis (RA) and underlie their incompletely understood mechanisms of pathogenesis. Since 90%…
Abstract Number: 172 • 2017 ACR/ARHP Annual Meeting
Optimizing Precision Medicine By Using Genetics to Assign Diagnostic Prior Probabilities to Patients with Synovitis
Rachel Knevel^1,2,3,4, Chikashi Terao^5,6,7, Jing Cui^1,8, Kamil Slowikowski^2,9,10, TWJ Huizinga³, Elizabeth Karlson¹¹ and Soumya Raychaudhuri^1,2,12,13, ¹Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, ³Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ⁴Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Bosten, MA, ⁵Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, ⁶Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan, ⁷Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan, ⁸Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁹Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, ¹⁰Division of Genetics, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, ¹¹Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹²Department of Institute of Inflammation and Repair, University of Manchester, Manchester, United Kingdom, ¹³Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: As the cost of genome-wide genotyping plummets, and biobanking efforts integrating medical records and genetics are rapidly expanding, many patients will have genotyping available…
Abstract Number: 2937 • 2017 ACR/ARHP Annual Meeting
Genetic Variants in HLA-C and Class I Pathway Genes Influence Susceptibility to Kawasaki Disease
Chisato Shimizu¹, Jihoon Kim², Hariklia Eleftherohorinou³, Victoria Wright³, Long Hoang⁴, Adriana Tremoulet⁵, Alessandra Franco⁶, Martin Hibberd⁴, Atsushi Takahashi^7,8, Michiaki Kubo⁹, Kaoru Ito¹⁰, Toshihiro Tanaka^10,11, Yoshihiro Onouchi^10,12, Lachlan Coin³, Michael Levin³, Jane Burns¹³ and Hiroko Shike¹⁴, ¹Pediatrics, University of California San Diego, School of Medicine, La Jolla, CA, ²Medicine, University California San Diego, School of Medicine, Division of Biomedical Informatics, La Jolla, CA, ³Imperial College London, London, United Kingdom, ⁴Genome Institute of Singapore, Singapore, Singapore, ⁵Pediatrics, University California San Diego, School of Medicine, La Jolla, CA, ⁶Pediatrics, University of California San Diego School of Medicine, La Jolla, CA, ⁷Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, ⁸Department of Genomic Medicine, National Cerebral And Cardiovascular Center, Suita, Japan, ⁹RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, ¹⁰Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, ¹¹Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo, Japan, ¹²Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan, ¹³Pediatrics, University California San DIego, School of Medicine, San Diego, CA, ¹⁴Penn State Hershey Medical Center, Hershey, PA
Background/Purpose: Host genetics influence susceptibility to Kawasaki disease (KD), an acute pediatric vasculitis, and genome wide association studies (GWAS) have detected variants with modest effects…
Abstract Number: 288 • 2017 ACR/ARHP Annual Meeting
The Rheumatoid Arthritis Susceptibility Gene C5orf30 Is an Immunomodulator in Macrophages
Emma Dorris¹, Karen Creevey¹, John Moylett¹, Simon Tazzyman², Munitta Muthana² and Anthony G. Wilson¹, ¹UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland, ²University of Sheffield Medical School, Sheffield, United Kingdom
Background/Purpose: rs26232 in the first intron of C5orf30 has been associated with risk of developing rheumatoid arthritis (RA) and severity of tissue damage. C5orf30 is…
Abstract Number: 377 • 2017 ACR/ARHP Annual Meeting
Novel Insights into Periodic Fever Syndromes
Tiffany Hoang¹, Shreya Shrestha¹ and Daniel Albert², ¹Dartmouth Medical School, Lebanon, NH, ²Medicine/Rheumatology, Dartmouth-Hitchcock Med Ctr, Lebanon, NH
Background/Purpose: The Periodic Fever Syndromes (PFS) are a rapidly expanding group of disorders primarily of the innate immune system that often affect the inflammasome. In…
Abstract Number: 689 • 2017 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants Associate with Hypertension and Nephritis Progression Despite Lower dsDNA Titers in Ghanaian Systemic Lupus Erythematous Patients
Ashira Blazer¹, Ida Dzifa Dey², Sara Rasmussen³, Robert M. Clancy⁴ and Jill P. Buyon⁵, ¹Internal Medicine Division of Rheumatology, NYU School of Medicine, New York, NY, ²Internal Medicine, Rheumatology, The University of Ghana, Accra, Ghana, ³Department of Medicine, Division of Rheumatology, NYU School of Medicine, New York, NY, ⁴NYU School of Medicine, New York, NY, ⁵Rheumatology, New York University School of Medicine, New York, NY
Background/Purpose: Two Apolipoprotein L1 (APOL1) risk variants (RV), G1 and G2 are enriched in African populations due to a conferred resistance to Trypanosoma brucei. This…
Abstract Number: 775 • 2017 ACR/ARHP Annual Meeting
Transcriptome Sequencing Reveals Genetic Polymorphisms Associated with Ssc Gene Expression Subtypes
Guoshuai Cai¹, Bhaven K. Mehta², Mengqi Huang², Jennifer Franks¹, Tammara A. Wood¹, Kathleen D. Kolstad³, Marianna Stark⁴, Antonia Valenzuela⁵, David Fiorentino⁶, Robert W. Simms⁷, Nicole Orzechowski⁸, Lorinda Chung⁹ and Michael L. Whitfield², ¹Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Rheumatology, Stanford University Medical Center, Stanford, CA, ⁴Stanford University, Stanford, CA, ⁵Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁶Department of Dermatology, Stanford University School of Medicine, Palo Alto, CA, ⁷Rheumatology, Boston University School of Medicine, Boston, MA, ⁸Dartmouth-Hitchcock Medical Center, Lebanon, NH, ⁹Rheumatology, Stanford University Medical Center, Palo Alto, CA
Background/Purpose: Systemic sclerosis (SSc) is a complex disease characterized by substantial genotypic and phenotypic heterogeneity. Four molecular gene expression subsets have been identified from SSc…
Abstract Number: 919 • 2017 ACR/ARHP Annual Meeting
HLA Type Imputation in the Genome Research in African American Scleroderma Patients (GRASP) Cohort Reveals Strong Associations of African Ancestry MHC Class II Types with Scleroderma and Lack of Class I HLA Type Associations
Elaine F. Remmers¹, Pravitt Gourh², Steven Boyden³, Nadia D. Morgan⁴, Ami A. Shah⁴, Adebowale Adeyemo¹, Amy Bentley¹, Mary A. Carns⁵, Settara C. Chandrasekharappa¹, Lorinda Chung⁶, Lindsey A. Criswell⁷, Chris T. Derk⁸, Robyn T. Domsic⁹, Ayo Doumatey¹, Heather Gladue¹⁰, Avram Goldberg¹¹, Jessica K. Gordon¹², Vivien M Hsu¹³, Reem Jan¹⁴, Dinesh Khanna¹⁵, Maureen D. Mayes¹⁶, Thomas A. Medsger Jr.¹⁷, Paula S. Ramos¹⁸, Marcin A. Trojanowski¹⁹, Lesley A. Saketkoo²⁰, Elena Schiopu¹⁵, Victoria K. Shanmugam²¹, Daniel Shriner¹, Richard M. Silver²², Virginia D. Steen²³, Antonia Valenzuela²⁴, John Varga²⁵, Charles Rotimi¹, Fredrick M. Wigley²⁶, Francesco Boin²⁷ and Daniel L. Kastner²⁸, ¹National Institutes of Health (NIH), National Human Genome Research Institute, Bethesda, MD, ²NIAMS-Rheumatology, National Institutes of Health (NIH), National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ³National Institutes of Health (NIH), National Institute on Deafness and Other Communication Disorders, Bethesda, MD, ⁴Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁶Rheumatology, Stanford University Medical Center, Palo Alto, CA, ⁷Medicine/Rheumatology, University of California, San Francisco, San Francisco, CA, ⁸Rheumatology, University of Pennsylvania, Philadelphia, PA, ⁹Rheumatology, University of Pittsburgh, Pittsburgh, PA, ¹⁰Rheumatology, Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹¹NYU Langone Medical Center, New York, NY, ¹²Rheumatology, Hospital for Special Surgery, New York, NY, ¹³University of Medicine and Dentistry of New Jersey--Robert Wood Johnson Medical School, New Brunswick, NJ, ¹⁴Medicine, Rheumatology, University of Chicago, Chicago, IL, ¹⁵University of Michigan, Ann Arbor, MI, ¹⁶University of Texas McGovern Medical School, Houston, TX, ¹⁷Department of Medicine/Rheumatology, University of Pittsburgh, Pittsburgh, PA, ¹⁸Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, ¹⁹Boston University School of Medicine, Boston, MA, ²⁰Rheumatology, Tulane University School of Medicine, New Orleans, LA, ²¹Rheumatology, The George Washington University, Washington, DC, ²²Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ²³Rheumatology, MedStar Georgetown University Hospital, Washington, DC, ²⁴Stanford University School of Medicine, Stanford, CA, ²⁵Rheumatology and Dermatology, Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ²⁶Rheum Div/Mason F Lord, Johns Hopkins University, Baltimore, MD, ²⁷Rheumatology, University California, San Francisco, San Francisco, CA, ²⁸Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: The Genome Research in African American Scleroderma Patients (GRASP) consortium was created to obtain a collection of African American (AA) scleroderma patients to facilitate…
Abstract Number: 1013 • 2017 ACR/ARHP Annual Meeting
HLA-Class II Associations with ANCA-Associated Vasculitis in the Japanese Population: Different Features from European Populations
Aya Kawasaki¹, Fumio Hirano², Ken-ei Sada³, Shigeto Kobayashi⁴, Hidehiro Yamada⁵, Hiroshi Furukawa¹, Kenji Nagasaka⁶, Takahiko Sugihara⁷, Kunihiro Yamagata⁸, Takayuki Sumida⁹, Shigeto Tohma¹⁰, Shoichi Ozaki⁵, Seiichi Matsuo¹¹, Hiroshi Hashimoto¹², Hirofumi Makino¹³, Yoshihiro Arimura¹⁴, Masayoshi Harigai¹⁵ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, ²Departments of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, ³Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ⁴Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, ⁵Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ⁶Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, ⁷Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, ⁸Department of Nephrology, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, ⁹Department of Internal Medicine, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, ¹⁰Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ¹¹Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹²Juntendo University School of Medicine, Tokyo, Japan, ¹³Okayama University Hospital, Okayama, Japan, ¹⁴First Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan, ¹⁵Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan
Background/Purpose: HLA-class II region harbors the strongest genetic factors for ANCA-associated vasculitis (AAV), and differences in the genetic background of HLA-class II may partly explain…
Abstract Number: 1104 • 2017 ACR/ARHP Annual Meeting
A Genome-Wide Association Study of Gout in People of European Ancestry
Tony R. Merriman¹, Murray Cadzow¹, Marilyn E. Merriman¹, Amanda Phipps-Green¹, Ruth Topless¹, Abhishek Abhishek², Mariano Andrés³, Linda A. Bradbury⁴, Russell Buchanan⁵, Katie Cremin⁶, Erika De Guzman⁶, Janak de Zoysa⁷, Michael Doherty⁸, Catherine Hill⁹, Tom W.J. Huizinga¹⁰, Tim Jansen¹¹, M. Janssen¹², Leo .A.B. Joosten¹³, Fina Kurreeman¹⁴, Susan Lester¹⁵, Frederic Liote¹⁶, Donia Macartney-Coxson¹⁷, Hirotaka Matsuo¹⁸, Geraldine M. McCarthy¹⁹, Sally McCormick²⁰, Rinki Murphy²¹, Karel Pavelka²², Fernando Perez-Ruiz²³, Juan Puig²⁴, Timothy RDJ Radstake²⁵, Philip Riches²⁶, Maureen Rischmueller²⁷, Edward Roddy²⁸, Malcolm Smith²⁹, Eli A. Stahl³⁰, Blanka Stiburkova³¹, Richard Stubbs³², Anne-Kathrin Tausche³³, Rosa Torres³⁴, Rob Walker¹, Ken Yamamoto³⁵, Matthew A. Brown⁶, Hyon K. Choi³⁶, Nicola Dalbeth²¹, Jeffrey N. Miner³⁷, Alexander So³⁸, Lisa K. Stamp³⁹ and Tanya Major⁴⁰, ¹University of Otago, Dunedin, New Zealand, ²Devision of Rheumatology, University of Nottingham, NG5 1PB, England, ³Reumatología, Hospital General Universitario Alicante, Alicante, Spain, ⁴Queensland University of Technology, Brisbane, Australia, ⁵University of Melbourne, Melbourne, Australia, ⁶Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, ⁷Waitemata District Health Board, Auckland, New Zealand, ⁸Academic Rheumatology, University of Nottingham, Nottingham, Great Britain, ⁹Medicine, The University of Adelaide, Adelaide, Australia, ¹⁰Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ¹¹VieCuri Medical Center, Venlo, Netherlands, ¹²Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, ¹³Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, ¹⁴Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, Leiden, Netherlands, ¹⁵Rheumatology, Queen Elizabeth Hospital, Woodville South, Australia, ¹⁶University Paris Diderot, Paris, France, ¹⁷Institute if Environmental and Scientific Reseacrh, Wellington, New Zealand, ¹⁸Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, ¹⁹Div of Rheumatology, Mater Misericordiae University Hospital, Dublin, Ireland, ²⁰Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²¹University of Auckland, Auckland, New Zealand, ²²Institute of Rheumatology, Prague, Czech Republic, ²³BioCruces Health Research Institute, Barakaldo, Spain, ²⁴Hospital Universitario La Paz, Madrid, Spain, ²⁵Rheumatic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ²⁶University of Edinburgh, Edinburgh, United Kingdom, ²⁷Rheumatology, The Queen Elizabeth Hospital, South Australia, Adelaide, Australia, ²⁸Research Institute for Primary Care and Health Sciences, Keele University, Keele, United Kingdom, ²⁹Flinders Medical Centre and Repatriation Hospital, Adelaide, Australia, ³⁰Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, ³¹Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic, ³²P3 Research Limited, Wellington, New Zealand, ³³Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, ³⁴La Paz University Hospital, Madrid, Spain, ³⁵Department of Medical Chemistry, Kurume University School of Medicine, Kurume, Japan, ³⁶Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, ³⁷Discovery Biology, Ardea Biosciences, Inc., San Diego, CA, ³⁸Rheumatology, CHUV, Univ of Lausanne, Lausanne, Switzerland, ³⁹University of Otago, Christchurch, New Zealand, ⁴⁰Biochemistry, University of Otago, Dunedin, New Zealand
A genome-wide association study of gout in people of European ancestryBackground/Purpose: Genome wide association studies (GWAS) have provided considerable insight into the molecular control of…
Abstract Number: 1127 • 2017 ACR/ARHP Annual Meeting
Replication of Genetic Association of Peroxisome Proliferator-Activated Receptor Gamma-1B with Gout in a New Zealand Polynesian Sample Set
Amara Shaukat¹, Tim Jansen², M. Janssen³, Leo .A.B. Joosten⁴, Timothy Radstake⁵, Philip Riches⁶, Anne-Kathrin Tausche⁷, Jennie Harre Hindmarsh⁸, Nicola Dalbeth⁹, Lisa K. Stamp¹⁰ and Tony R. Merriman¹¹, ¹Univ Otago, Dunedin, New Zealand, ²VieCuri Medical Center, Venlo, Netherlands, ³Rheumatology Dept, Rijnstate Hospital, Arnhem, Netherlands, ⁴Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, ⁵Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁶University of Edinburgh, Edinburgh, United Kingdom, ⁷Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, ⁸Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, ⁹University of Auckland, Auckland, New Zealand, ¹⁰University of Otago, Christchurch, New Zealand, ¹¹Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand
Background/Purpose: Gout results from formation of monosodium urate (MSU) crystals in the presence of hyperuricemia. Genome wide association studies have provided significant insights into hyperuricemia,…
Abstract Number: 1271 • 2017 ACR/ARHP Annual Meeting
Associations between Systemic Lupus Susceptibility (SLE) Loci and Anti-Phospholipid Antibody (aPL) Positivity in Childhood-Onset SLE (cSLE)
Linda T Hiraki^1,2, France Gagnon³, Earl Silverman², Deborah M. Levy², Sima Abu Alsaoud⁴ and Karl Everett^1,3, ¹Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada, ²Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ³Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada, ⁴Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Genome-wide association studies have identified nearly 60 susceptibility loci for systemic lupus erythematosus (SLE). However, few studies have investigated their influence on specific disease…
Abstract Number: 1663 • 2017 ACR/ARHP Annual Meeting
De Novo Mutation in ΑCΑCΒ in Childhood Onset SLE Highlights a Novel Role As Modulator of Nucleic Acid Sensor-Driven Type I Interferon Responses
Isaac Harley¹, Hanna Schulz¹, John Cambier², Leah C. Kottyan³, John B. Harley⁴, V. Michael Holers⁵, Hermine I. Brunner⁶, Kristine Kuhn¹, Kevin D. Deane¹ and Kenneth Kaufman⁷, ¹Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ²Deparment of Immunology & Microbiology, University of Colorado School of Medicine, Aurora, CO, ³Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Medicine, Division of Rheumatology, University of Colorado Denver, Aurora, CO, ⁶Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Rare variants provide important opportunity for mechanistic insight as they carry substantial effect sizes and provide deep insight into disease etiopathogenesis. To date, several…

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