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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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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