Abstracts tagged "genomics"

Abstract Number: 980 • 2012 ACR/ARHP Annual Meeting
Genomewide Association Study in Systemic Lupus Erythematosus: Known Loci
Antonio Fernandez-Nebro¹, Patricia E. Carreira², Ricardo Blanco³, Victor M. Martinez-Taboada⁴, Luis Carreño⁵, Alejandro Olive⁶, José Luis Andreu⁷, Mª Angeles Aguirre⁸, Paloma Vela⁹, Jose Javier Pérez Venegas¹⁰, Jose Luís Marenco¹¹, Joan Miquel Nolla¹², Antonio Zea¹³, José M. Pego-Reigosa¹⁴, Mercedes Freire González¹⁵, Gabriela Ávila¹⁶, María América López-Lasanta¹⁶, Raül Tortosa¹⁶, Antonio Julià¹⁶ and Sara Marsal¹⁶, ¹Rheumatology, Hospital Regional Universitario Carlos Haya, Málaga, Spain, ²Rheumatology, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain, ³Rheumatology, Hospital Universitario Marques De Valdecilla, Santander, Spain, ⁴Rheumatology, Hospital Universitario Marques de Valdecilla. IFIMAV, Santander, Spain, ⁵Rheumatology, Gregorio Marañón Hospital, Madrid, Spain, ⁶Rheumatology Service, Germans Trias Pujol Hospital, Barcelona, Spain, ⁷Rheumatology, Puerta de Hierro Universitary Hospital, Madrid, Spain, ⁸Rheumatology, IMIBIC-Reina Sofia Hospital, Cordoba, Spain, ⁹Rheumatology, Hospital General Universitario de Alicante, Alicante, Spain, ¹⁰Rheumatology, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, ¹¹Rheumatology, HU Puerta de Hierro Majadahonda, Madrid, Spain, ¹²Rheumatology, Hospital Universitario de Bellvitge, Barcelona, Spain, ¹³Rheumatology, Hospital Universitario Ramon y Cajal, Madrid, Spain, ¹⁴Rheumatology, Hospital do Meixoeiro, Vigo, Spain, ¹⁵Rheumatology, Complejo Hospitalario Universitario de La Coruña,, La Coruña, Spain, ¹⁶Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease with an estimated prevalence of 40:100,000 cases in European populations. SLE has a strong genetic…
Abstract Number: 2657 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Association Meta-Analysis of Eight Independent Systemic Juvenile Idiopathic Arthritis Collections Reveals Regional Association Spanning the Major Histocompatibility Complex Class II and III Gene Cluster
Michael J. Ombrello¹, Elaine Remmers², Alexei A. Grom³, Wendy Thomson⁴, Alberto Martini⁵, Marco Gattorno⁶, Seza Ozen⁷, Sampath Prahalad⁸, John F. Bohnsack⁹, Andrew Zeft¹⁰, Norman T. Ilowite¹¹, Elizabeth D. Mellins¹², Ricardo A. G. Russo¹³, Claudio Len¹⁴, Sheila K. Oliveira¹⁵, Rae SM Yeung¹⁶, Lucy R. Wedderburn¹⁷, Jordi Anton Lopez¹⁸, Colleen Satorius¹⁹, Ioanna Tachmazidou²⁰, Carl D. Langefeld²¹, Eleftheria Zeggini²⁰, Susan D. Thompson²², Patricia Woo²³ and Daniel L. Kastner², 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, ³PRCSG, Cincinnati, OH, ⁴Manchester Academic Health Science Centre, Arthritis Research UK Epidemiology Unit, Manchester, United Kingdom, ⁵Pediatric Rheumatology Collaborative Study Group [PRSCG], Cincinnati, OH, ⁶Second Division of Paediatrics, Istituto Giannina Gaslini, Genova, Italy, ⁷Hacettepe University, Ankara, Turkey, ⁸Pediatrics, Emory Children's Center, Atlanta, GA, ⁹Dept of Pediatriacs, University of Utah, Salt Lake City, UT, ¹⁰Pediatric Rheumatology, The Cleveland Clinic, Cleveland, OH, ¹¹Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, ¹²Dept of Pediatrics CCSR, Stanford University Medical Center, Stanford, CA, ¹³Immunology & Rheumatology, Hospital de Pediatria Garrahan, Buenos Aires, Argentina, ¹⁴Pediatrics, Universidade Federal de São Paulo / UNIFESP, Sao Paulo, Brazil, ¹⁵Pediatric Rheumatology, Instituto de Pediatria e Puericultura Martagão Gesteira (IPPMG) da Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁶Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada, ¹⁷Rheumatology Unit , Institute of Child Health, University College London (UCL), London, United Kingdom, ¹⁸pediatric Rheumatology, University Childrenxs Hospital, Barcelona, Spain, ¹⁹Inflammatory Disease Section, National Human Genome Research Institute, Nationsl Institutes of Health, Bethesda, MD, ²⁰The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, ²¹Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ²²Department of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²³Division of Infection and Immunity, University College London, London, United Kingdom
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare inflammatory disease that is inherited as a complex genetic trait. While the pathophysiology of sJIA is…
Abstract Number: 2284 • 2012 ACR/ARHP Annual Meeting
Epigenetic Profiling in Monozygotic Twins Discordant for Systemic Lupus Erythematosus Reveals Prominent Hypomethylation of Interferon-Inducible Genes
Paula S. Ramos¹, Timothy D. Howard², Miranda C. Marion³, Satria Sajuthi⁴, Jennifer A. Kelly⁵, Kathy L. Moser⁵ and Carl D. Langefeld⁴, ¹Department of Medicine, Medical University of South Carolina, Charleston, SC, ²Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, ³Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC, ⁴Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁵Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, multisystem, autoimmune inflammatory disease. In addition to genetic and environmental influences, the discordance rate between monozygotic (MZ)…
Abstract Number: 982 • 2012 ACR/ARHP Annual Meeting
Genetic Variants near Insulin-Like Growth Factor Binding Protein 3 (IGFBP3) Are Associated with Hip Osteoarthritis
Daniel S. Evans¹, Neeta Parimi¹, Ana M. Valdes², Hanneke J.M Kerkhof³, Frederic Cailotto⁴, Michael C. Nevitt⁵, Steven R. Cummings¹, Rik J. Lories⁶, Timothy D. Spector⁷, Nigel K. Arden⁸, Joyce B. van Meurs³ and Nancy E. Lane⁹, ¹California Pacific Medical Center Research Institute, San Francisco, CA, ²Department of Twin Research and Genetic Epidemiology, Dept of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, King's College London, London, United Kingdom, ³Department of Internal Medicine, Erasmus Medical Center and The Netherlands Genomics Initiative-Sponsored Netherlands Consortium for Healthy Aging, Rotterdam, Netherlands, ⁴Laboratory for Skeletal Development and Joint Disorders, Department of Development and Regeneration, KU Leuven, Leuven, Belgium, ⁵Epidemiology & Biostatistics, UCSF (University of California, San Francisco), San Francisco, CA, ⁶Dept of Development and Regeneration, Laboratory for Skeletal Development and Joint Disorders, KU Leuven, Leuven, Belgium, ⁷Dept of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom, ⁸NDORMS; MRC Lifecourse Epidemiology Unit, Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, United Kingdom, ⁹Internal Medicine, Center for Musculoskeletal Health, UC Davis School of Medicine, Sacramento, CA
Background/Purpose: Hip osteoarthritis (HOA) is one of the most common joint disorders and can result in pain and disability. HOA is heritable, but the particular…
Abstract Number: 2663 • 2012 ACR/ARHP Annual Meeting
A Variant in the Osteoprotegerin Gene Is Associated with Coronary Atherosclerosis in Patients with Rheumatoid Arthritis: Results From a Candidate Gene Study
Cecilia P. Chung¹, Joseph F. Solus², Annette M. Oeser³, Chun Li⁴, Paolo Raggi⁵, Jeffrey R. Smith³ and C. Michael Stein³, ¹Medicine, Vanderbilt University, Nashville, TN, ²Medicine, Vanderbilt Medical Center, Nashville, TN, ³Vanderbilt University, Nashville, TN, ⁴Biostatistics, Vanderbilt University, Nashville, TN, ⁵Emory University, Atlanta, GA
Background/Purpose: Patients with rheumatoid arthritis (RA) have accelerated atherosclerosis. However, this association is not fully explained by traditional cardiovascular risk factors or markers of inflammation. Little is…
Abstract Number: 2267 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Pathway Analysis of Genome-Wide Association Studies On Systemic Lupus Erythematosus
Young Ho Lee¹, Sung Jae Choi², Jong Dae Ji² and Gwan Gyu Song³, ¹Internal Medicine, Rheumatology, Korea University Medical Center, Seoul, South Korea, ²Rheumatology, Korea University Medical Center, Seoul, South Korea, ³Div of Rheum, Dept of Int Med, Korea Univ College of Med, Seoul, South Korea
Background/Purpose: Genome-wide association studies (GWASs) have been successfully used to identify novel common genetic variants that contribute to susceptibility to complex diseases, but individual GWASs…
Abstract Number: 983 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 As a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis
Jing Cui¹ and International RA Consortium on Therapy (InteRACT)², ¹Rheumatology, Brigham and Women's Hospital, Boston, MA, ²Division of Rheumatology, Immunology and Allergy and Division of Genetics, Boston, MA
Background/Purpose: There are no biomarkers that predict response to anti-TNF therapy in rheumatoid arthritis (RA). Here, we conduct a genome-wide association study (GWAS) to identify…
Abstract Number: 2271 • 2012 ACR/ARHP Annual Meeting
Variation of Interferon-Alpha Production in Healthy Individuals and Association with Autoimmune Susceptibility Genes
Olof Berggren¹, Andrei Alexsson², Gunnar V. Alm³, Ann-Christine Syvänen⁴, Lars Rönnblom² and Maija-Leena Eloranta², ¹Department of Medical Sciences, SciLife Lab, Rheumatology, Uppsala University, Uppsala, Sweden, Uppsala, Sweden, ²Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden, ³Department of Biomedical Sciences and Veterinary Public Health, Swedish University of Agricultural Sciences, Uppsala, Sweden, ⁴Department of Medical Sciences, Molecular Medicine, Uppsala University, Uppsala, Sweden
Background/Purpose: Many autoimmune diseases, e.g. systemic lupus erythematosus (SLE), have an activated type I interferon (IFN) system and about 40 SLE susceptibility loci, many within…
Abstract Number: 986 • 2012 ACR/ARHP Annual Meeting
Genome Wide Association Studies of Knee Osteoarthritis in 2 Large North American Cohorts: A Meta-Analysis with 2667 Cases
Marc C. Hochberg¹, Laura Yerges-Armstrong², Changwan (Larry) Lu³, Michelle S. Yau⁴, Braxton D. Mitchell², Joanne M. Jordan⁵, Youfang Liu⁶, Jordan B. Renner⁷, T. McSherry⁸, D.M. Taverna⁸, David Duggan⁹, W.J. Mysiw¹⁰ and Rebecca D. Jackson¹⁰, ¹Department of Medicine, University of Maryland, Baltimore, MD, ²Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, ³University of Maryland School of Medicine, Baltimore, MD, ⁴University of Maryland, Baltimore, MD, ⁵Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, ⁶University of North Carolina, Chapel Hill, NC, ⁷University of North Carolina Department of Radiology, Chapel Hill, NC, ⁸TGen, Pheonix, AZ, ⁹Translational Genomics Research Institute, Phoenix, AZ, ¹⁰Ohio State University, Columbus, OH
Background/Purpose: A strong genetic contribution to knee osteoarthritis (OA) is widely recognized although few loci have been robustly associated with knee OA susceptibility. To identify…
Abstract Number: 2274 • 2012 ACR/ARHP Annual Meeting
Genes Associated with Systemic Lupus Erythematosus Show Evidence of Selection in the Gullah African American Population
Paula S. Ramos¹, Satria Sajuthi², Yiqi Huang³, Diane L. Kamen⁴, Jasmin Divers², Kenneth M. Kaufman⁵, John B. Harley⁶, Robert P. Kimberly⁷, Carl D. Langefeld², Michèle M. Sale³, W. Timothy Garvey⁸ and Gary S. Gilkeson⁹, ¹Department of Medicine, Medical University of South Carolina, Charleston, SC, ²Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ³Department of Medicine and Center for Public Health Genomics, University of Virginia, Charlottesville, VA, ⁴Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, ⁵1Center for Autoimmune Genomics and Etiology and Rheumatology Division, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati, Cincinnati, OH, ⁶Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁸Department of Nutrition Sciences and Birmingham VA Medical Center, University of Alabama at Birmingham, Birmingham, AL, ⁹Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC
Background/Purpose: In spite of its higher prevalence and severity, little is known about the genetic etiology of systemic lupus erythematosus (SLE) in African Americans (AA).…
Abstract Number: 974 • 2012 ACR/ARHP Annual Meeting
Identification of Susceptibility Loci for Inflammatory Arthritis
K. J. A. Steel¹, Anne Hinks², John Bowes³, Joanna Cobb², Edward Flynn⁴, Carl D. Langefeld⁵, Sampath Prahalad⁶, Johannes Peter Haas⁷, John F. Bohnsack⁸, Stephen Guthery⁸, Anne Barton¹, Susan D. Thompson⁹ and Wendy Thomson¹, ¹Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom, ²Arthritis Research UK Epidemiology Unit, Manchester Academic Health Sciences Centre, Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, ³Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ⁴Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, ⁵Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁶Pediatrics, Emory Children's Center, Atlanta, GA, ⁷Childrens Hospital, Erlangen, Germany, ⁸Department of Pediatrics,, University of Utah, Salt Lake City, ⁹Department of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: One of the principal findings of genome wide association studies in autoimmune diseases has been the substantial overlap of genetic susceptibility loci identified. This…
Abstract Number: 2279 • 2012 ACR/ARHP Annual Meeting
Genetic Markers for Circulating Vitamin D and the Associations with Risk of Systemic Lupus Erythematosus
Linda T. Hiraki¹, Adrienne H. Williams², Arun-Prasad Manoharan³, Peter Kraft⁴, Carl D. Langefeld⁵, Robert R. Graham⁶ and Elizabeth W. Karlson⁷, ¹Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard School of Public Health, Boston, MA, ²Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ³Genentech, Inc., ⁴Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, ⁵Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁶ITGR Human Genetics, Genentech, Inc., South San Francisco, CA, ⁷Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex, life threatening autoimmune disease and a presumed consequence of susceptibility genes interacting with environmental exposures. Vitamin D…
Abstract Number: 894 • 2012 ACR/ARHP Annual Meeting
Genetic Variants in the IL-4 and IL-4 Receptor Genes in Association with the Severity of Joint Damage in Rheumatoid Arthritis: A Study in Seven Cohorts
A. Krabben¹, A. G. Wilson², R. Knevel¹, A. Zhernakova³, E. Brouwer³, E. Lindqvist⁴, T. Saxne⁴, G. Stoeken-Rijsbergen¹, J. A. B. van Nies¹, D. P. C. de Rooy¹, T.W.J. Huizinga¹, B. P. C. Koeleman⁵, R. E. M. Toes¹, P. K. Gregersen⁶ and A. H. M. van der Helm-van Mil¹, ¹Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ²Infection & Immunity, University of Sheffield, Sheffield, United Kingdom, ³Rheumatology and Clinical Immunology, University of Groningen, University Medical Center, Groningen, Netherlands, ⁴Rheumatology, Lund University, Lund, Sweden, ⁵Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ⁶Genomics and Human Genetics, Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY
Background/Purpose: The severity of RA is reflected by the severity of radiological joint destruction. It is highly variable between patients and up to 58% of…

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