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Abstracts tagged "genetics"

  • Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting

    Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter

    David B. Mount1,2, 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 Escalante4,8,9, 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: 2861 • 2013 ACR/ARHP Annual Meeting

    Accounting For Parental Load and Identification Of Multiple Risk Variants For Anti-Ro Congenital Heart Block Through High-Density Genotyping Of Immune-Related Loci

    Robert M. Clancy1, Jill P. Buyon2, Nathalie Costedoat-Chalumeau3, Antonio Brucato4, Kateri Levesque5, Véronique Ramoni6, Miranda C. Marion7, Mary Comeau8, Satria Sajuthi9, Paula S. Ramos10, Robert P. Kimberly11, Timothy D. Howard12 and Carl D. Langefeld13, 1Medicine, New York University School of Medicine, New York, NY, 2Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY, 3Internal Medicine, Hopital Cochin, Paris, France, 4Internal Medicine, USC Internal Medicine, Ospedali Riuniti, Bergamo, Italy, 5Medicine Interne, Hopital Cochin, Paris, France, 6Rheumatology, Rheumatology University of Pavia, Pavia, Italy, 7Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC, 8Wake Forest University Health Sciences, Winston-Salem, NC, 9Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 10Department of Medicine, Medical University of South Carolina, Charleston, SC, 11Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 12Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, 13Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC

    Background/Purpose:  Anti-Ro associated congenital heart block (CHB) exhibits a 33% concordance rate in monozygotic twins, 17.5% recurrence of disease and a high sibling risk ratio…
  • Abstract Number: 180 • 2013 ACR/ARHP Annual Meeting

    Familial Aggregation Of Female Premenopausal Gout –Monogenic, Polygenic Or Clinical Coincidence?

    Bingqing Zhang1, Shufen Liu2, Nuo Si3, Yun Zhang2,4 and Xuejun Zeng5, 1Peking Union Medical College, Beijing, China, 2Peking Union Medical College Hospital, Beijing, China, 3Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, 4Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, 5Medicine, Peking Union Medical College Hospital, Beijing, China

    Background/Purpose: Primary gout is a multifactorial disease, in which genetic background and environmental factors interact with each other. Genetic predisposition is particularly prominent in those…
  • Abstract Number: 2739 • 2013 ACR/ARHP Annual Meeting

    Immunochip Analysis Identifies New Susceptibility Loci For Systemic Sclerosis: Implications For Pathogenesis

    Maureen D. Mayes for the US Scleroderma GWAS Group1, Lara Bossini-Castillo for the Spanish Scleroderma Group2, Olga Gorlova3, Jose Ezequiel Martin4, Xiaodong Zhou1, Wei Chen5, Shervin Assassi1, Jun Ying5, John D. Reveille1, Peter K. Gregersen6, Annette T. Lee7, Maria Teruel8, Francisco David Carmona4, Bobby P.C. Koeleman9, Matthew A. Brown and the Immunochip Consortium10, Christopher P. Denton11, Murray Baron for the Canadian Scleroderma Research Group12, Jasper Broen13, T.R.D.J. Radstake13 and Javier Martin4, 1Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, 2Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, 3Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, 4Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, 5Department of Epidemiology, UT M.D. Anderson Cancer Center, Houston, TX, 6Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, 7Genomics & Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, 8Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, 9Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, 10Translational Research Institute, University of Queensland Diamantina Institute, Brisbane, Australia, 11Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, 12Rheumatology, Jewish General Hospital, Montreal, QC, Canada, 13Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands

    Background/Purpose : The purpose of this study was to identify SSc risk loci shared with other autoimmune diseases on the Immunochip and to fine-map previously…
  • Abstract Number: 2697 • 2013 ACR/ARHP Annual Meeting

    Identification Of Genetic and Epigenetic Alterations In Spondyloarthritis

    Tibor A. Rauch1, Beata Tryniszewska1, Andras Vida1, Timea Ocsko1, Sandor Szanto2, Holly L. Rosenzweig3, Matthew A. Brown4, Gethin P Thomas5, Katalin Mikecz1 and Tibor T. Glant1, 1Orthopedic Surgery, Rush University Medical Center, Chicago, IL, 2Rheumatology, University of Debrecen, Debrecen, Hungary, 3Oregon Health & Science University, Portland, OR, 4Translational Research Institute, University of Queensland Diamantina Institute, Brisbane, Australia, 5Translational Reserch Institute, University of Queensland Diamantina Institute, Woolloongabba, Australia

    Background/Purpose: Ankylosing spondylitis (AS) is the prototypic spondyloarthritis and affects approximately 0.2-0.5% of the human population. It is estimated that genetic risk factors contribute >90%…
  • Abstract Number: 2642 • 2013 ACR/ARHP Annual Meeting

    A Novel Genetic Basis For Systemic Vasculitis: Polyarteritis Nodosa Caused By Recessive Mutations In An Immune-Related Gene

    Reeval Segel1,2, Pnina Elkan-Navon3, Sarah B. Pierce4, Tom Walsh4, Judith Barash5, Shay Padeh6, Avraham Zlotogorski7, Yackov Berkun8, Isabel Voth9, Philip Hashkes10, Liora Harel11, Eduard Ling12, Fatos Yalcinkaya13, Ozgur Kasapcopur14, Paul F. Renbaum15, Ariella Weinberg-Shukron15, Barbara Schormair16, Mordechai Shohat17, Alan A. Rubinow18, Elon Pras19, Juliane Winkelmann20, Mustafa Tekin21, Yair Anikster22, Mary-Claire King4 and Ephrat Levy-Lahad15, 1Medical Genetics and Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel, 2Hebrew University Medical School, Jerusalem, Israel, 3Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel, 4Medical Genetics, University of Washington, Seattle, WA, 5Pediatric Day Care, Kaplan Medical Center, Rehovot, Israel, 6Pediatrics, Sheba Medical Center, Ramat Gan, Israel, 7Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel, 8Pediatrics, Hadassah Medical Center, Mount Scopus, Jerusalem, Israel, 9Department of Neurology, Technische Universitat Munchen Klinikum rechts der Isar, Munich, Germany, 10Pediatric Rheumatology, Shaare Zedek Medical Center, Jerusalem, Israel, 11Pediatric Rheumatology unit, Schneider Children's Medical Center, Tel Aviv University, Petach Tikvah, Israel, 12Rheumatology Unit, Soroka University Medical Center and Ben-Gurion University, Beer-Sheva, Beer Sheva, Israel, 13Pediatric Nephrology and Rheumatology, Ankara University, Ankara, Turkey, 14Ankara University, Ankara, Turkey, 15Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel, 16Helmholtz Zentrum Munchen, Munich, Germany, 17Rafael Recanati medical genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikvah, Israel, 18Hadassah Medical Center, Jerusalem, Israel, 19Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel, 20Genetics, Stanford University, San Francisco, CA, 21Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, 22Metabolic Disease Unit, Sheba Medical Center, Ramat Gan, Israel

    Background/Purpose: Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis. Disease pathogenesis and possible genetic factors are poorly understood.  We identified familial, mostly pediatric PAN, in…
  • Abstract Number: 1894 • 2013 ACR/ARHP Annual Meeting

    Association Of Alleles and Amino Acids Of The Major Histocompatibility Complex Class I Chain-Related Gene A With Psoriatic Disease

    Remy Pollock1, Fawnda Pellett2, Renise Ayearst3, Fatima Abji1, Dafna D. Gladman2 and Vinod Chandran2, 1University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 2Division of Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 3Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada

    Background/Purpose: We previously reported associations between alleles of the major histocompatibility complex class I chain-related gene A (MICA) and psoriatic disease that were independent of…
  • Abstract Number: 1899 • 2013 ACR/ARHP Annual Meeting

    Interferon Regulatory Factor 5 Gene Variant rs2004640 Is Associated With Carotid Intimal Medial Thickness In Rheumatoid Arthritis Patients

    Saskia Vosslamber1, Alper M. van Sijl2, Carina Bos1, A.E. Voskuyl2, Michael T. Nurmohamed2 and Cornelis L. Verweij3, 1Pathology, VU University Medical Center, Amsterdam, Netherlands, 2Rheumatology, VU University Medical Center, Amsterdam, Netherlands, 3Pathology and Rheumatology, VU University Medical Center, Amsterdam, Netherlands

    Background/Purpose : Rheumatoid arthritis (RA) is a chronic inflammatory joint disease which is associated with an increased cardiovascular (CV) risk.. An important process in atherogenesis…
  • Abstract Number: 1707 • 2013 ACR/ARHP Annual Meeting

    Biological Insights From Genetics Of Rheumatoid Arthritis Contribute To Drug Discovery

    Yukinori Okada1,2,3, Di Wu2,4,5,6, Chikashi Terao7,8, Katsunori Ikari9, Yuta Kochi10, Koichiro Ohmura11, Akari Suzuki10, Hisashi Yamanaka9, Joshua C. Denny12, Jeffrey D. Greenberg13, Robert R. Graham14, Matthew A. Brown15, Sang-Cheol Bae16, Jane Worthington17, Leonid Padyukov18, Lars Klareskog19, Peter K. Gregersen20, Peter M. Visscher21,22, Katherine A. Siminovitch23,24 and Robert M. Plenge25, 1Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 2Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 3Broad Institute, Cambridge, MA, 4Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Boston, MA, 5Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, 6Department of Statistics, Harvard University, Cambridge, MA, 7Center for Genomic Medicine, Kyoto University, Kyoto, Japan, 8Department of Rheumatology and Clinical immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan, 9Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 10Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 11Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan, 12Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN, 13Rheumatology, NYU Hospital for Joint Diseases, New York, NY, 14ITGR Human Genetics, Genentech, Inc., South San Francisco, CA, 15Human Genetics Group, The University of Queensland Diamantina Insititute, Brisbane, Australia, 16Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 17Arthritis Research UK Epidemiology Unit, Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, 18Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, 19Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, 20Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, 21The University of Queensland Diamantina Institute, Princess Alexandra Hospital, University of Queensland, Brisbane, Australia, 22Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia, 23Mount Sinai Hospital, Toronto, ON, Canada, 24University of Toronto, Toronto, ON, Canada, 25Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA

    Background/Purpose: A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological datasets to provide…
  • Abstract Number: 1702 • 2013 ACR/ARHP Annual Meeting

    Identification of Multiple Genetic Susceptibility Loci in Takayasu’s Arteritis

    Guher Saruhan-Direskeneli1, Travis Hughes2, Patrick S. Coit2, Joel M. Guthridge3, Judith A. James4, Peter A. Merkel of behalf of the Vasculitis Clinical Research Consortium5, Haner Direskeneli on behalf of the Turkish Takayasu Study Group6 and Amr H. Sawalha2, 1Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, 2Division of Rheumatology, University of Michigan, Ann Arbor, MI, 3Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, 4Oklahoma Medical Research Foundation, Oklahoma City, OK, 5Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, 6Department of Rheumatology, Marmara University, Faculty of Medicine, Istanbul, Turkey

    Background/Purpose: Takayasu’s arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu’s arteritis remains poorly understood, but genetic contribution to the disease…
  • Abstract Number: 1704 • 2013 ACR/ARHP Annual Meeting

    Mapping The Shared and Distinct HLA Alleles For Seropositive and Seronegative Rheumatoid Arthritis

    Buhm Han1, Stephen Eyre2, Dorothee Diogo1, John Bowes3, Yukinori Okada1, Leonid Padyukov4, Robert M. Plenge5, Lars Klareskog6, Jane Worthington7, Peter K. Gregersen8, Paul de Bakker9 and Soumya Raychaudhuri1, 1Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 2Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom, 3Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, 4Rheumatology Unit, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, 5Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 6Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, 7Arthritis Research UK Epidemiology Unit, Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, 8Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, 9Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands

    Background/Purpose: Investigators have long speculated that the two subtypes of rheumatoid arthritis (RA), anti-citrullinated protein autoantibody positive (ACPA+) and negative (ACPA-), have distinct underlying genetic…
  • Abstract Number: 1629 • 2013 ACR/ARHP Annual Meeting

    Functional Effect Of NR1H3 (LXRA) Promoter Polymorphisms In Korean Patients With Systemic Lupus Erythematosus

    Ja-Young Jeon1, Hyoun-Ah Kim1, Ju-Yang Jung1 and Chang-Hee Suh2, 1Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, 2Department of Rheumatology, Ajou University Hospital, Suwon, South Korea

    Background/Purpose: Liver X receptor alpha (LXRA, NR1H3) and beta (LXRB, NR1H2) can influence macrophage biology by modulation of lipid metabolism and by effects on innate…
  • Abstract Number: 1632 • 2013 ACR/ARHP Annual Meeting

    Identification Of a Novel Systemic Lupus Erythematosus Risk Locus Between FCHSD2 and P2RY2 In Koreans

    Christopher J. Lessard1,2, Satria Sajuthi3, So-Young Bang4, Hye-Soon Lee5, Young Mo Kang6, Chang-Hee Suh7, Won Tae Chung8, Soo-Kon Lee9, Jung-Yoon Choe10, Seung-Cheol Shim11, Shin-Seok Lee12, Ji Hee Oh13, Young Jin Kim14, Jong-Young Lee14, Bok-Ghee Han14, Patrick M. Gaffney15, Timothy J. Vyse for SLEGEN16, John B. Harley17,18, Carl D. Langefeld3, Sang-Cheol Bae19, Kathy L. Sivils1,2 and Betty P. Tsao20, 1Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 3Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 4Hanyang University Guri Hospital, Guri, South Korea, 5Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea, 6Department of Internal Medicine (Rheumatology), Kyungpook National University School of Medicine, Daegu, South Korea, 7Department of Rheumatology, Ajou University Hospital, Suwon, South Korea, 8Division of Rheumatology, Department of Internal Medicine, Dong-A University Hospital, Busan, South Korea, 9Department of Internal Medicine, Yonsei University College of Medicine, Seoul, South Korea, 10Catholic University of Daegu School of Medicine, Daegu, South Korea, 11Division of Rheumatology, Daejeon Rheumatoid & Degenerative Arthritis Center, Chungnam National University Hospital, Daejeon, South Korea, 12Rheumatology, Chonnam National University Medical School and Hospital, Gwangju, South Korea, 13Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Osong, South Korea, 14Korea National Institute of Health, Osong, South Korea, 15Oklahoma Medical Research Foundation, Oklahoma City, OK, 16King's College London, Guy's Hospital, London, United Kingdom, 17Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 18US Department of Veterans Affairs Medical Center, Cincinnati, OH, 19Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 20Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, heterogeneous autoimmune disorder characterized by inflammation, loss of tolerance to self-antigens, and dysregulated interferon responses. Although >40…
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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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