Abstracts tagged "genomics and major histocompatibility complex (MHC)"

Abstract Number: 1900 • 2014 ACR/ARHP Annual Meeting
HLA-DRB1*1101, Regulatory Variants of the MHC, and a Regulatory Region Near an Intergenic Long Noncoding RNA on Chromosome 1 Are Risk Factors for Systemic Juvenile Idiopathic Arthritis
Michael J. Ombrello¹, Elaine F. Remmers², Ioanna Tachmazidou³, Alexei Grom⁴, Dirk Föll⁵, Alberto Martini⁶, Marco Gattorno⁷, Seza Ozen⁸, Sampath Prahalad^9,10, Andrew S. Zeft¹¹, John F. Bohnsack¹², Norman T. Ilowite¹³, Jane L. Park¹⁴, Elizabeth D. Mellins¹⁵, Ricardo A. G. Russo¹⁶, Claudio A. Len¹⁷, Sheila K. Feitosa de Oliveira¹⁸, Rae SM Yeung¹⁹, Lucy R. Wedderburn^20,21, Jordi Anton²², Tobias Schwarz²³, Buhm Han²⁴, Richard H. Duerr²⁵, Jean-Paul Achkar²⁶, M. Ilyas Kamboh²⁷, Kenneth M. Kaufman²⁸, Leah C. Kottyan²⁸, Dalila Pinto²⁹, Stephen Scherer³⁰, Marta E. Alarcón-Riquelme³¹, Elisa Docampo Martinez³², Xavier Estivill³³, Ahmet Gul³⁴, Colleen Satorius³⁵, Paul I.W. de Bakker^36,37,38, Soumya Raychaudhuri^37,39,40, Carl D. Langefeld⁴¹, Susan D. Thompson⁴², Eleftheria Zeggini³, Wendy Thomson⁴³, Daniel L. Kastner⁴⁴, Patricia Woo⁴⁵ and International Childhood Arthritis Genetics (INCHARGE) Consortium, ¹Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, ⁴Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Pediatric Rheumatology and Immunology, University Children's Hospital Muenster, Muenster, Germany, ⁶University of Genova, Genova, Italy, ⁷Pediatric Rheumatology, Instituto Giannina Gaslini, Genoa, Italy, ⁸Deptartment. of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ⁹Emory University School of Medicine, Atlanta, GA, ¹⁰Children's Healthcare of Atlanta, Atlanta, GA, ¹¹Pediatrics Rheumatology, Cleveland Clinic, Cleveland, OH, ¹²Pediatriacs, University of Utah, Salt Lake City, UT, ¹³Pediatrics, Albert Einstein College of Medicine, Bronx, NY, ¹⁴Pediatric Rheumatology, Stanford University Medical Center, Stanford, CA, ¹⁵Dept of Pediatrics CCSR, Stanford University Medical Center, Stanford, CA, ¹⁶Immunology & Rheumatology, Hospital de Pediatria Garrahan, Buenos Aires, Argentina, ¹⁷Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil, ¹⁸Pediatric Rheumatology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil, ¹⁹Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²⁰University College London (UCL) Institute of Child Health, London, United Kingdom, ²¹Great Ormond Street Hospital, London, United Kingdom, ²²Pediatric Rheumatology Unit. Hospital Sant Joan de Déu. Universitat de Barcelona, Barcelona, Spain, ²³Pediatric rheumathology and osteology, University of Wuerzburg, Wuerzburg, Germany, ²⁴Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, ²⁵Department of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, PA, ²⁶Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, OH, ²⁷Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, ²⁸Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²⁹Genetics and Genomi Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, ³⁰The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada, ³¹Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³²Unit of Animal Genomics, GIGA-Université de Liège, LIege, Belgium, ³³Genetic Causes of Disease Laboratory, Center for Genomic Regulation, Barcelona, Spain, ³⁴Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³⁵National Human Genome Research Institute, Bethesda, MD, ³⁶Brighan and Women's Hospital, Harvard Medical School, Boston, MA, ³⁷Broad Institute of MIT and Harvard, Cambridge, MA, ³⁸University Medical Center Utrecht, Utrecht, Netherlands, ³⁹Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁴⁰Manchester Academic Health Sciences Centre, Manchester, United Kingdom, ⁴¹Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁴²Division and Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴³Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, ⁴⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁴⁵Paediatric Rheumatology Unit, University College London, London, United Kingdom
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe inflammatory disease of unknown etiology. We utilized a genomic approach to interrogate the molecular pathogenesis of…
Abstract Number: 1879 • 2013 ACR/ARHP Annual Meeting
Major Histocompatibility Complex Class I Molecules Contribute To Behçet’s Disease Risk Through Both Innate and Adaptive Immune Interactions
Michael J. Ombrello^1,2, Yohei Kirino^2,3, Paul de Bakker⁴, Ahmet Gül⁵, Elaine F. Remmers⁶ and Daniel L. Kastner⁷, ¹Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ⁴Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ⁵Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ⁶Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Behçet's Disease (BD) is a complex genetic disease of unknown etiology that is characterized by inflammatory lesions of the eyes, skin, and oro-genital mucosa.…

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