Abstracts tagged "genetics"

Abstract Number: 179 • 2013 ACR/ARHP Annual Meeting
The Association Between Single Nucleotide Polymorphism ABCG2 rs2231142 and Hyperuricemia: A Case-Control Study
Bingqing Zhang¹, Weigang Fang², Yun Zhang^3,4, Shufen Liu³, Yuanjie Li³ and Xuejun Zeng², ¹Peking Union Medical College, Beijing, China, ²Medicine, Peking Union Medical College Hospital, Beijing, China, ³Peking Union Medical College Hospital, Beijing, China, ⁴Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China
Background/Purpose: The prevalence of hyperuricemia and gout in China increased markedly in the past decades. Genome-wide association studies in Caucasian population have identified multiple…
Abstract Number: 891 • 2013 ACR/ARHP Annual Meeting
A Single Amino Acid In The β1 Chain Of HLA-DR Explains The Majority Of The HLA Association With Giant Cell Arteriti
Javier Martin¹, F. David Carmona², Jose Ezequiel Martin³, Aurora Serrano¹, Lara Bossini-Castillo⁴, Roser Solans⁵, Jose A. Miranda-Filloy⁶, Santos Castañeda⁷, Maria C. Cid⁸, Jose A. Hernandez⁹, Inmaculada C. Morado¹⁰, Javier Narvaez¹¹, Ricardo Blanco¹², Bernardo Sopeña¹³, M. Jesus García-Villanueva¹⁴, Jordi Monfort¹⁵, Norberto Ortego-Centeno¹⁶, Ainhoa Unzurrunzaga¹⁷, Begoña Marí-Alfonso¹⁸, Cesar Magro¹⁹, Ana Hidalgo-Conde²⁰, Marta Conde-Jaldon²¹, María F. González-Escribano²¹, Paul de Bakker²², Bobby P.C. Koeleman²³ and Miguel A. González-Gay²⁴, ¹Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ²Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Armilla (Granada), Spain, ³Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ⁴Immunology, Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ⁵Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain, ⁶Rheumatology, Division of Rheumatology, Hospital Lucus Augusti, Lugo, Spain, ⁷Rheumatology, Hospital Universitario de La Princesa, IIS Princesa, Madrid, Spain, ⁸Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ⁹Hospital Clinic. University of Barcelona, IDIBAPS,, Barcelona, Spain, ¹⁰Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ¹¹Rheumatology, Hospital Universitario de Bellvitge, Barcelona, Spain, ¹²Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain, ¹³Thrombosis and Vasculitis Unit-Internal Medicine, Complejo Hospitalario Universitario de Vigo (CHUVI), Vigo, Spain, ¹⁴Rheumatology, Hospital Ramón y Cajal, Madrid, Spain, ¹⁵Reumatologia, Hospital del Mar, Barcelona, Spain, ¹⁶Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain, ¹⁷Internal Medicine, Hospital de Galdakano, Vizcaya, Spain, ¹⁸Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell, Spain, ¹⁹Rheumatology, Hospital Clínico San Cecilio, Granada, Spain, ²⁰Internal Medicine, Hospital Universitario Virgen de la Victoria, Málaga, Spain, ²¹Immunology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ²²Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ²³Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ²⁴Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain
Background/Purpose: Giant cell arteritis (GCA) is a polygenic inflammatory disease affecting medium- and large-sized blood vessels in people elder than 50-years old. Although it is…
Abstract Number: 157 • 2013 ACR/ARHP Annual Meeting
Application Of a Multiplex Gene Polymorphism Assay For Variants Associated With Rheumatoid Arthritis Susceptibility: Results Of 168 Single Nucleotide Polymorphisms In The Optima Study
Jeffrey F. Waring¹, Viswanath Devanarayan², Kenneth Idler¹, Feng Hong², Josef S. Smolen³, Arthur Kavanaugh⁴, Hartmut Kupper⁵, Hendrik Schulze-Koops⁶ and Alla Skapenko⁷, ¹AbbVie Inc., North Chicago, IL, ²AbbVie Bioresearch Center, Worchester, MA, ³Medical University of Vienna and Hietzing Hospital, Vienna, Austria, ⁴University of California San Diego, La Jolla, CA, ⁵AbbVie Deutschland GmbH & Co. KG, Ludwigshafen, Germany, ⁶Division of Rheumatology, University of Munich, Munich, Germany, ⁷Division of Rheumatology and Clinical Immunology, University of Munich, Munich, Germany
Background/Purpose: Genetic factors have been identified that may be associated with the development and severity of rheumatoid arthritis (RA), disease progression, or response to treatment.…
Abstract Number: 892 • 2013 ACR/ARHP Annual Meeting
The Functional PTPN22 Variant R620W Is Strongly Associated With Giant Cell Artetitis Predisposition
F. David Carmona¹, Sarah L. Mackie², Aurora Serrano³, Ana Marquez⁴, Roser Solans⁵, Jose A. Miranda-Filloy⁶, Jose Hernández-Rodríguez⁷, Maria C. Cid⁸, Santos Castañeda⁹, Inmaculada C. Morado¹⁰, Javier Narvaez¹¹, Ricardo Blanco¹², Bernardo Sopeña¹³, M. Jesus García-Villanueva¹⁴, Jordi Monfort¹⁵, Norberto Ortego-Centeno¹⁶, Ainhoa Unzurrunzaga¹⁷, Begoña Marí-Alfonso¹⁸, Julio Sánchez-Martín¹⁹, Eugenio de Miguel²⁰, Cesar Magro²¹, Enrique Raya²², Niko Braun²³, Joerg Latus²⁴, Øyvind Molberg²⁵, Benedicte A. Lie²⁶, Frank Moosig²⁷, Torsten Witte²⁸, Ann W. Morgan², Miguel A. González-Gay²⁹ and Javier Martin³, ¹Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Armilla (Granada), Spain, ²NIHR-Leeds Musculoskeletal Biomedical Research Unit and Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom, ³Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ⁴Instituto de Parasitología y Biomedicina 'López-Neyra' (IPBLN-CSIC), Granada, Spain, ⁵Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain, ⁶Rheumatology, Division of Rheumatology, Hospital Lucus Augusti, Lugo, Spain, ⁷Hospital Clínic. University of Barcelona. IDIBAPS, Barcelona, Spain, ⁸Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ⁹Rheumatology, Hospital Universitario de La Princesa, IIS Princesa, Madrid, Spain, ¹⁰Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ¹¹Rheumatology, Hospital Universitario de Bellvitge, Barcelona, Spain, ¹²Rheumatology, Hospital Universitario Marqués de Valdecilla. IFIMAV. Santander. Spain, Santander, Spain, ¹³Thrombosis and Vasculitis Unit-Internal Medicine, Complejo Hospitalario Universitario de Vigo (CHUVI), Vigo, Spain, ¹⁴Rheumatology, Hospital Ramón y Cajal, Madrid, Spain, ¹⁵Reumatologia, Hospital del Mar, Barcelona, Spain, ¹⁶Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain, ¹⁷Internal Medicine, Hospital de Galdakano, Vizcaya, Spain, ¹⁸Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell, Spain, ¹⁹Rheumatology,, Hospital Universitario 12 de Octubre, Madrid, Spain, ²⁰Rheumatology, University Hospital La Paz - IdiPaz, Madrid, Spain, ²¹Rheumatology, Hospital Clínico San Cecilio, Granada, Spain, ²²Rheumatology, University Hospital San Cecilio, Granada, Spain, ²³Department of Internal Medicine, Division of Nephrology, Robert-Bosch-Hospital, Stuttgart, Germany, ²⁴Internal Medicine, Division of Nephrology, Robert-Bosch-Hospital, Stuttgart, Germany, ²⁵Oslo University Hospital, Oslo, Norway, ²⁶Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ²⁷Department of Clinical Immunology and Rheumatology, University of Luebeck, Bad Bramstedt, Germany, ²⁸Clinical Immunology and Rheumatology, Medical University Hannover, Hanover, Germany, ²⁹Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain
Background/Purpose: The PTPN22/CSK signaling represents one of the common susceptibility pathways in autoimmunity. Considering that the genetic basis of giant cell arteritis (GCA), an autoimmune…
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…

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