Abstracts tagged "genetics"

Abstract Number: 2959 • 2014 ACR/ARHP Annual Meeting
Twenty-Eight Loci That Influence Serum Urate Levels: Analysis of Association with Gout
Tony R. Merriman¹, Marilyn E. Merriman¹, Ruth Topless¹, Sara Altaf², Grant Montgomery³, Christopher Franklin⁴, Gregory T. Jones⁵, Andre M. van Rij², Douglas HN White⁶, Lisa K. Stamp⁷, Nicola Dalbeth⁸ and Amanda Phipps-Green¹, ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³Queensland Institute of Medical Research, Brisbane, Australia, ⁴University of Auckland, Auckland, New Zealand, ⁵Surgery, University of Otago, Dunedin, New Zealand, ⁶Waikato Clinical School, Waikato Hospital, Hamilton, New Zealand, ⁷University of Otago, Christchurch, New Zealand, ⁸Department of Medicine, University of Auckland, Auckland, New Zealand
Background/Purpose: Twenty-eight genetic loci are associated with serum urate levels in Europeans. Ten are established, with a further 18 of weaker effect more recently detected.…
Abstract Number: 880 • 2014 ACR/ARHP Annual Meeting
An Immunochip Study Confirms a Strong Contribution of HLA Class I and II Genes in the Susceptibility to Giant Cell Arteritis
Francisco David Carmona¹, Sarah Mackie², Jose Ezequiel Martin¹, John Taylor², Augusto Vaglio³, Lara Bossini-Castillo¹, Santos Castañeda⁴, Maria C. Cid⁵, José Hernández-Rodríguez⁶, Roser Solans⁷, Ricardo Blanco⁸, Lorenzo Beretta⁹, Claudio Lunardi¹⁰, Marco A. Cimmino¹¹, Cisca Wijmenga¹², Torsten Witte¹³, Julia Holle¹⁴, Frank Moosig¹⁴, Verena Schönau¹⁵, Andre Franke¹⁶, Øyvind Palm¹⁷, Andreas P. Diamantopoulos¹⁸, Benedicte A. Lie¹⁹, Simon Carette²⁰, David Cuthbertson²¹, Gary S. Hoffman²², Nader A. Khalidi²³, Curry L. Koening²⁴, Carol A. Langford²⁵, Carol McAlear²⁶, Larry Moreland²⁷, Paul A. Monach²⁸, Christian Pagnoux²⁰, Philip Seo²⁹, Antoine G. Sreih³⁰, Kenneth J. Warrington³¹, Steven R. Ytterberg³¹, Colin T. Pease³², Andrew Gough³³, Michael Green³⁴, Lesley Hordon³⁵, Stephen Jarrett³⁶, Richard Watts³⁷, Sarah Levy³⁸, Yusuf Patel³⁹, Sanjeet Kamath⁴⁰, Bhaskar Dasgupta⁴¹, Paul IW. de Bakker⁴², Bobby P.C. Koeleman⁴², Jennifer H. Barrett², Carlo Salvarani⁴³, Peter A. Merkel⁴⁴, Miguel A. Gonzalez-Gay⁸, Ann W. Morgan² and Javier Martin¹, ¹Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ²NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds, United Kingdom, ³Unit of Nephrology, University Hospital of Parma, Parma, Italy, ⁴Rheumatology, Hospital Universitario de La Princesa, IISP, Madrid, Spain, ⁵Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036- Barcelona, Spain, ⁶Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ⁷Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain, ⁹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹⁰Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹¹Department of Internal Medicine, Academic Unit of Clinical Rheumatology, University of Genova, Genova, Italy, ¹²Department of Genetics, University Medical Hospital Groningen, University of Groningen, Groningen, Netherlands, ¹³Clinic for Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ¹⁴Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt, Germany, ¹⁵Department of Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen, Germany, ¹⁶Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany, ¹⁷Department of Rheumatology, Oslo University Hospital and University of Oslo, Oslo, Norway, ¹⁸Department of Rheumatology, Hospital of Southern Norway Trust, Kristiansand, Norway, ¹⁹Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ²⁰Division of Rheumatology, University of Toronto, Toronto, ON, Canada, ²¹Department of Biostatistics, University of South Florida, Tampa, FL, ²²Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH, ²³Division of Rheumatology, St. Joseph’s Hospital, McMaster University, Hamilton, ON, Canada, ²⁴Division of Rheumatology, University of Utah, Salt Lake City, UT, ²⁵Center for Vasculitis Care and Research, Cleveland Clinic, Cleveland, OH, ²⁶Division of Rheumatology, Vasculitis Center, University of Pennsylvania, Philadelphia, PA, ²⁷Rheumatology & Clinical Immunology, Vasculitis Center, of University of Pittsburgh Medical Center, Pittsburgh, PA, ²⁸Section of Rheumatology, Vasculitis Center, Boston University School of Medicine, Boston, MA, ²⁹Rheumatology Division, Johns Hopkins Vasculitis Center, Johns Hopkins University, Baltimore, MD, ³⁰Medicine/Division of Rheumatology, The University of Pennsylvania, Philadelphia, PA, ³¹Division of Rheumatology, Mayo Clinic, Rochester, MN, ³²Department of Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom, ³³Department of Rheumatology, Harrogate and District Foundation Trust, Harrogate, United Kingdom, ³⁴Department of Rheumatology, York Teaching Hospital NHS Foundation Trust, York, United Kingdom, ³⁵Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Dewsbury, United Kingdom, ³⁶Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Wakefield, United Kingdom, ³⁷Department of Rheumatology, Ipswich Hospital NHS Trust, Ipswich, United Kingdom, ³⁸Department of Rheumatology, Croydon Health Service NHS Trust, Croydon, United Kingdom, ³⁹Department of Rheumatology, Hull and East Yorkshire NHS Trust, Hull East Yorkshire, United Kingdom, ⁴⁰Department of Rheumatology, Staffordshire and Stoke-on-Trent Partnership NHS Trust, Staffordshire, United Kingdom, ⁴¹Department of Rheumatology, Southend University Hospital, Essex, United Kingdom, ⁴²Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ⁴³Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy, ⁴⁴University of Pennsylvania, Philadelphia, PA
Background/Purpose: Giant cell arteritis (GCA) is a chronic autoimmune vasculitis with an important genetic component. We aimed to identify relevant risk loci for GCA predisposition…
Abstract Number: 2961 • 2014 ACR/ARHP Annual Meeting
Conditional Analysis of 30 Serum Urate Loci Identifies 25 Additional Independent Effects
Eli Stahl¹, Hyon K. Choi², Murray Cadzow³, Tanya Flynn³, Ruth Topless⁴ and Tony R. Merriman⁴, ¹Mt Sinai School of Medicine, New York City, NY, ²Division of Rheumatology, Allergy, and Immunology Massachusetts General Hospital, Harvard Medical School, Boston, MA, ³University of Otago, Dunedin, New Zealand, ⁴Department of Biochemistry, University of Otago, Dunedin, New Zealand
Background/Purpose: Single variants in 30 genetic loci have been associated with serum urate levels in Europeans by meta-analysis of summary statistics of 48 individual genome-wide…
Abstract Number: 765 • 2014 ACR/ARHP Annual Meeting
Gene-Gene Interaction of IRF5 and BLK Polymorphisms in US and Spanish Cohorts of Systemic Sclerosis (SSc)
Pravitt Gourh¹, Yoonhee Kim², Sandeep K. Agarwal³, Filemon K. Tan⁴, Shervin Assassi⁴, Javier Martin⁵, Frank C. Arnett⁴ and Maureen D Mayes⁴, ¹NIAMS-Rheumatology, National Institutes of Health, Bethesda, MD, ²NIH, Bethesda, MD, ³Medicine, Section of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, ⁴Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁵Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain
Background/Purpose Systemic sclerosis (SSc) is a complex autoimmune disease and several genetic loci increasing SSc susceptibility have been identified with small to modest effect sizes.…
Abstract Number: 2953 • 2014 ACR/ARHP Annual Meeting
International Immunochip Study in the Idiopathic Inflammatory Myopathies Identifies Novel Susceptibility Loci and Confirms HLA As Strongest Genetic Risk Factor
Simon Rothwell¹, Robert G. Cooper², Ingrid E. Lundberg³, Frederick W. Miller⁴, Peter K. Gregersen⁵, Jiri Vencovsky⁶, Katalin Danko⁷, Lucy R Wedderburn⁸, Vidya Limaye⁹, Albert Selva O'Callaghan¹⁰, Michael G. Hanna¹¹, Pedro Machado¹¹, Lauren M. Pachman¹², Ann M. Reed¹³, Lisa G. Rider⁴, Joanna Cobb¹, Hazel Platt¹⁴, Øyvind Molberg¹⁵, Olivier Benveniste¹⁶, Pernille Mathiesen¹⁷, Timothy Radstake¹⁸, Andrea Doria¹⁹, Jan De Bleecker²⁰, Boel De Paepe²¹, Britta Maurer²², William E. Ollier¹⁴, Leonid Padyukov³, Terrance P. O'Hanlon⁴, Annette Lee²³, Hector Chinoy¹ and Janine Lamb¹⁴, ¹Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, United Kingdom, ²MRC/ARUK Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom, ³Rheumatology Unit, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, ⁴Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ⁵The Feinstein Institute for Medical Research, Manhasset, NY, ⁶Institute of Rheumatology and Department of Rheumatology, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, ⁷University of Debrecen, University of Debrecen, Debrecan, Hungary, ⁸Rheumatology Unit, Arthritis Research UK Centre for Adolescent Rheumatology, University College London, London, United Kingdom, ⁹Royal Adelaide Hospital, Adelaide, Australia, ¹⁰Vall d'Hebron General Hospital, Barcelona, Spain, ¹¹MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom, ¹²Cure JM Myositis Center, Ann & Robert H. Lurie Children's Hospital of Chicago Research Center, Chicago, IL, ¹³Rheumatology, Mayo Clinic, Rochester, MN, ¹⁴Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, United Kingdom, ¹⁵Department of Rheumatology, Oslo University Hospital Rikshospitalet, Oslo, Norway, ¹⁶Internal Medecine Dpt 1, Pitié-Salpêtrière Hospital, APHP, Paris, France, ¹⁷Paediatric Department, Holbaek University Hospital, Holbaek, Denmark, ¹⁸University Medical Center Utrecht, Utrecht, Netherlands, ¹⁹Department of Medicine - DIMED, University of Padova, Padova, Italy, ²⁰University of Ghent, Ghent, Belgium, ²¹Neuromuscular Reference Center, University of Ghent, Ghent, Belgium, ²²Division of Rheumatology, University Hospital Zurich, Zurich, Switzerland, ²³Genomics & Human Genetics, Feinstein Institute Med Rsch, Manhasset, NY
Background/Purpose: The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes…
Abstract Number: 625 • 2014 ACR/ARHP Annual Meeting
Fine-Mapping Major Histocompatibility Complex Associations Identified Contribution of Multiple Class I and II HLA Genes on Risk of Psoriasis and Its Clinical Subtypes
Yukinori Okada¹, Buhm Han², Lam C. Tsoi³, Philip E. Stuart⁴, Eva Ellinghaus⁵, Trilokraj Tejasvi⁶, Vinod Chandran⁷, Fawnda Pellett⁸, Remy Pollock⁹, Anne M. Bowcock¹⁰, Gerald G. Krueger¹¹, Michael Weichenthal⁵, John J. Voorhees⁶, Proton Rahman¹², Peter K. Gregersen¹³, Andre Franke¹⁴, Rajan P. Nair⁶, Gonçalo R. Abecasis¹⁵, Dafna D. Gladman⁷, James T. Elder⁶, Paul IW. de Bakker¹⁶ and Soumya Raychaudhuri¹⁷, ¹Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, ²Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, ³Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, ⁴Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, ⁵Christian-Albrechts-University of Kiel, Kiel, Germany, ⁶University of Michigan Medical School, Ann Arbor, MI, ⁷University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁸University of Toronto, Toronto, ON, Canada, ⁹Rheumatology, University of Toronto, Toronto, ON, Canada, ¹⁰Imperial College, London, United Kingdom, ¹¹Dermatology, University of Utah, Salt Lake City, UT, ¹²Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, ¹³The Feinstein Institute for Medical Research, Manhasset, NY, ¹⁴Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany, ¹⁵University of Michigan, Ann Arbor, MI, ¹⁶University Medical Center, Utrecht, Netherlands, ¹⁷Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Psoriasis vulgaris (PsV) risk is strongly associated with genetic variation within the major histocompatibility complex (MHC) region, although its fine genetic architecture has not…
Abstract Number: 2918 • 2014 ACR/ARHP Annual Meeting
Fine-Mapping Major Histocompatibility Complex Associations in ACPA-Positive Rheumatoid Arthritis Identified Shared HLA Amino Acid Polymorphisms in Asian and European Populations
Yukinori Okada¹, Kwangwoo Kim², Buhm Han³, Nisha E. Pillai⁴, Rick T-H. Ong⁴, Woei-Yuh Saw⁴, Ma Luo⁵, Lei Jiang⁶, Jian Yin⁶, So-Young Bang⁷, Hye-Soon Lee⁷, Matthew A. Brown⁸, Sang-Cheol Bae², Huji Xu⁹, Yik-Ying Teo⁴, Paul IW. de Bakker¹⁰ and Soumya Raychaudhuri³, ¹Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, ²Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ³Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁴National University of Singapore, Singapore, Singapore, ⁵University of Manitoba, Winnipeg, MB, Canada, ⁶The Second Military Medical University, Shanghai, China, ⁷Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea, ⁸University of Queensland Diamantina Institute, Brisbane, Australia, ⁹Shanghai Changzheng Hospital, Shanghai, China, ¹⁰Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Rheumatoid arthritis (RA) risk is strongly associated with variations within the major histocompatibility complex (MHC) region, and in particular to HLA-DRB1 alleles. We aimed…
Abstract Number: 87 • 2014 ACR/ARHP Annual Meeting
Association of TRIM21 (RO52) Polymorphisms with Systemic Lupus Erythematosus in a Japanese Population
Misaki Hidaka¹, Aya Kawasaki¹, Hiroshi Furukawa², Yuya Kondo³, Satoshi Ito⁴, Isao Matsumoto⁵, Makio Kusaoi⁶, Hirofumi Amano⁶, Akiko Suda⁷, Keigo Setoguchi⁸, Tatsuo Nagai⁹, Kota Shimada¹⁰, Shoji Sugii¹⁰, Akira Okamoto¹¹, Noriyuki Chiba¹², Eiichi Suematsu¹³, Masao Katayama¹⁴, Akiko Okamoto¹⁵, Hajime Kono¹⁵, Shigeru Ohno⁷, Shunsei Hirohata¹⁶, Shouhei Nagaoka¹⁷, Yoshinari Takasaki¹⁸, Hiroshi Hashimoto¹⁹, Shigeto Tohma², Takayuki Sumida³ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ³Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁴Department of Rheumatology, Niigata Rheumatic Center, Shibata, Japan, ⁵Department of Interenal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Department of Rheumatology and Internal Medicine, Juntendo University, Tokyo, Japan, ⁷Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, ⁸Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ⁹Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁰Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ¹¹Department of Rheumatology,, Himeji Medical Center, National Hospital Organization, Himeji, Japan, ¹²Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, ¹³Department of Internal Medicine and Rheumatology, Clinical Research Institute, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, ¹⁴Division of Rheumatology, Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya City, Aichi, Japan, ¹⁵Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, ¹⁶Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁷Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ¹⁸Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, ¹⁹Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose TRIM21, also referred to as Ro52 or SS-A1, belongs to the tripartite motif-containing (TRIM) family. TRIM21 is not only important as an autoantigen, but…
Abstract Number: 2841 • 2014 ACR/ARHP Annual Meeting
Identifying Novel Lupus Severity Risk Variants through Identification of Alleles with High Ethnic Variability Worldwide
Belinda A. Waltman¹, Kimberly E. Taylor², Julio Molineros³, Sarah French⁴, Joanne Nitiham¹, Jennifer Kelly³, Adam Adler⁵, Judith A. James³, Swapan Nath⁶, Marta Alarcon-Riquelme^3,7 and Lindsey A. Criswell¹, ¹Medicine, University of California, San Francisco, Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, San Francisco, CA, ²Department of Medicine, University of California, San Francisco, Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, San Francisco, CA, ³Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴School of Medicine, University of California, San Francisco, Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, San Francisco, CA, ⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷GENYO. Center for Genomics and Oncological Research, Granada, Spain
Background/Purpose: Substantial epidemiologic evidence demonstrates that SLE disproportionately affects minority patients in terms of incidence, prevalence, and disease severity. European ancestry has been associated with…
Abstract Number: 86 • 2014 ACR/ARHP Annual Meeting
Association of Leukocyte Immunoglobulin-like Receptor A3 (LILRA3) with Systemic Sclerosis
Yuki Hachiya¹, Aya Kawasaki¹, Takashi Matsushita², Hiroshi Furukawa³, Shouhei Nagaoka⁴, Kota Shimada⁵, Shoji Sugii⁵, Takayuki Sumida⁶, Shigeto Tohma³, Minoru Hasegawa⁷, Manabu Fujimoto⁸, Shinichi Sato⁹, Kazuhiko Takehara¹⁰ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Deramtology, Kanazawa University, Kanazawa, Japan, ³Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁴Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ⁵Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ⁶Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁷Dermatology, University of Fukui, Yoshida-gun, Fukui, Japan, ⁸Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁹Department of Dermatology, The University of Tokyo, Tokyo, Japan, ¹⁰Dermatology, Kanazawa University, Kanazawa, Japan
Background/Purpose: The leukocyte immunoglobulin-like receptors (LILRs) are a gene family located in leukocyte receptor complex at 19q13.4. LILRs are expressed mainly in immune cells as…
Abstract Number: 2673 • 2014 ACR/ARHP Annual Meeting
High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants
Fabiana Farias¹, Maria Wilbe², Johanna Dahlqvist¹, Dag Leonard³, Sergey Kozyrev¹, Gerli Pielberg¹, Maija-Leena Eloranta³, Lars Rönnblom³ and Kerstin Lindblad-Toh^1,4, ¹Department of Medical Biochemistry and Microbiology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ²Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ³Department of Medical Sciences, SciLife Lab, Rheumatology, Uppsala University, Uppsala, Sweden, Uppsala, Sweden, ⁴Broad Institute, Cambridge, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease, believed to arise from environmental triggering events in genetically predisposed individuals. To date, more than…
Abstract Number: 85 • 2014 ACR/ARHP Annual Meeting
Protective Association of HLA-DRB1*13:02 Against MPO-ANCA Positive ANCA-Associated Vasculitis in a Japanese Population
Naoyuki Tsuchiya¹, Narumi Hasebe¹, Ken-ei Sada², Shigeto Kobayashi³, Hidehiro Yamada⁴, Hiroshi Furukawa⁵, Kunihiro Yamagata⁶, Takayuki Sumida⁷, Nobuyuki Miyasaka⁸, Seiichi Matsuo⁹, Shigeto Tohma⁵, Shoichi Ozaki¹⁰, Hiroshi Hashimoto¹¹, Hirofumi Makino², Masayoshi Harigai¹² and Aya Kawasaki¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ³Department of Internal Medicine, Juntendo University Koshigaya Hospital, Tokyo, Japan, ⁴Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ⁵Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁶Department of Internal Medicine (Nephrology), Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁷Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁸Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan, ⁹Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ¹¹Juntendo University School of Medicine, Tokyo, Japan, ¹²Department of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose Epidemiology of antineutrophil cytoplasmic antibody (ANCA) – associated vasculitis (AAV) is substantially different between European and Asian populations. In the Japanese population, the majority…
Abstract Number: 2455 • 2014 ACR/ARHP Annual Meeting
IL-6 Proximal Promoter SNP rs18000795 Genotype Strongly Correlates with Synovial Fibroblast IL-6 Expression
Erika Noss¹, Sook Kyung Chang², Gerald Watts² and Michael Brenner², ¹Divison of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose Interleukin (IL)-6 is an important driver of rheumatoid arthritis (RA) pathology, and synovial fibroblasts are a major source of IL-6 in the RA synovium. …
Abstract Number: 82 • 2014 ACR/ARHP Annual Meeting
HLA-DPB1^*04:01 Confers Risk for PR3-ANCA Positive ANCA-Associated Vasculitis (AAV), but Protects Against MPO-ANCA Positive AAV, in a Japanese Population
Aya Kawasaki¹, Misaki Hidaka², Narumi Hasebe², Ken-ei Sada³, Shigeto Kobayashi⁴, Hidehiro Yamada⁵, Hiroshi Furukawa⁶, Kunihiro Yamagata⁷, Takayuki Sumida⁸, Nobuyuki Miyasaka⁹, Shigeto Tohma⁶, Shoichi Ozaki¹⁰, Seiichi Matsuo¹¹, Hiroshi Hashimoto¹², Hirofumi Makino³, Masayoshi Harigai¹³ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ³Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ⁴Department of Internal Medicine, Juntendo University Koshigaya Hospital, Tokyo, Japan, ⁵Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ⁶Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁷Department of Internal Medicine (Nephrology), Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁸Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁹Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan, ¹⁰Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ¹¹Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹²Juntendo University School of Medicine, Tokyo, Japan, ¹³Department of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose Epidemiologic difference between European and Asian populations is observed in antineutrophil cytoplasmic antibody (ANCA) – associated vasculitis (AAV). Granulomatosis with polyangiitis (GPA) is prevalent…
Abstract Number: 2089 • 2014 ACR/ARHP Annual Meeting
The APOL1 Gene Is Not Associated with Lupus Nephritis in Individuals with Enriched Amerindian Ancestry
Julio Molineros¹, Hannah Ainsworth², Robert Kimberly³, Michelle Petri⁴, Rosalind Ramsey-Goldman⁵, Luis M. Vilá⁶, John D. Reveille^7,8, Elizabeth E. Brown⁹, Swapan Nath¹, Carl D. Langfeld¹⁰, Bernardo Pons-Estel on behalf of GENLES¹¹, Graciela S. Alarcon¹² and Marta E. Alarcon Riquelme¹, ¹Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Wake Forest, Winston-Salem, NC, ³University of Alabama, Birmingham, AL, ⁴Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Rheumatology, Northwestern University and Feinberg School of Medicine, Chicago, IL, ⁶Department of Medicine, Division of Rheumatology, University of Puerto Rico Medical Sciences Campus, San Juan, PR, ⁷Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁸Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, ⁹University of Alabama at Birmingham, Birmingham, AL, ¹⁰Department of Biostatistics, Wake Forest University Health Sciences, Winston-Salem, NC, ¹¹Sanatorio Parque, Rosario, Argentina, ¹²Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL
The APOL1 Gene is not Associated with Lupus Nephritis in Individuals with Enriched Amerindian AncestryBackground/Purpose: The APOL1 gene coding variants G1 and G2 have been…

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