Abstracts tagged "genetics"

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 Zhang^2,4 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 Segel^1,2, 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 Okada^1,2,3, Di Wu^2,4,5,6, Chikashi Terao^7,8, 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. Visscher^21,22, Katherine A. Siminovitch^23,24 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…

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