Abstracts tagged "genetics"

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. Lessard^1,2, 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. Harley^17,18, Carl D. Langefeld³, Sang-Cheol Bae¹⁹, Kathy L. Sivils^1,2 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…
Abstract Number: 1635 • 2013 ACR/ARHP Annual Meeting
Identification Of Novel Genetic Associations Within Major Histocompatibility Complex (MHC) Class I and Class II In Systemic Lupus Erythematosus (SLE) Patients: An Examination Of Epitopes Of Early Autoimmunity
Gerard Dumancas¹, Chee Paul Lin², Indra Adrianto¹, Jennifer A. Kelly¹, Stuart B. Glenn¹, Jourdan Anderson², John B. Harley^3,4, Timothy J. Vyse⁵, Robert P. Kimberly⁶, Marta E. Alarcon-Riquelme⁷, Carl D. Langefeld⁸, Betty P. Tsao⁹, Lindsey A. Criswell¹⁰, Chaim O. Jacob¹¹, Patrick M. Gaffney¹², Kathy Sivils¹², Judith A. James^12,13 and Courtney Montgomery², ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁴US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁵Medical & Molecular Genetics, King's College London, London, United Kingdom, ⁶Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁷Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, Oklahoma City, OK, ⁸Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁹Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ¹⁰Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹¹Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, ¹²Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹³College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production, multiple organ involvement, strong genetic predisposition and specifically, to be associated with…
Abstract Number: 1480 • 2013 ACR/ARHP Annual Meeting
Prevalance Of Rare Variants In Methotrexate Pathway Genes: Implications From The National Heart Lung Blood Institute (NHLBI) Exome Sequencing Project
Fardina Malik, Internal Medicine, Alton Memorial Hospital, Alton, IL
Background/Purpose: Inter-individual variation to methotrexate (MTX) therapy in patients with rheumatoid arthritis (RA) is attributed at least in part to the presence of genetic variation…
Abstract Number: 160 • 2013 ACR/ARHP Annual Meeting
Association Analysis Of The Organic Anion Transporter 4 and Urate Transporter 1 Locus With Gout In New Zealand Case-Control Sample Sets Reveals Multiple Ancestral-Specific Effects
Tony R. Merriman¹, Amanda Phipps-Green¹, Jade E. Hollis-Moffatt², Marilyn E. Merriman¹, Ruth Topless¹, Grant Montgomery³, Brett Chapman³, Lisa K. Stamp⁴, Nicola Dalbeth⁵ and Tanya Flynn², ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³Queensland Institute of Medical Research, Brisbane, Australia, ⁴University of Otago, Christchurch, New Zealand, ⁵Medicine, University of Auckland, Auckland, New Zealand
Background/Purpose: There are genetic variants in urate transporters SLC22A11 (OAT4) and SLC22A12 (URAT1) that influence serum urate levels in European Caucasian. However, there is no…
Abstract Number: 1278 • 2013 ACR/ARHP Annual Meeting
The Arthritis Severity and Joint Damage Locus Cia25/Pia42 Is a New Genetic Regulator of the Invasive Properties of Synovial Fibroblasts
Max Brenner^1,2, Teresina Laragione^1,2 and Percio Gulko^1,2, ¹Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ²Molecular Medicine, Hosftra North Shore-LIJ School of Medicine, Manhasset, NY
Background/Purpose: Rheumatoid arthritis (RA) is a chronic and commonly disabling disease with a prevalence of 1% world-wide. Disease remission is rarely achieved with current treatments…
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…

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