Abstracts tagged "genomics"

Abstract Number: 978 • 2012 ACR/ARHP Annual Meeting
A Genome-Wide Interaction Study with Smoking Suggests New Risk Loci for Two Different Subsets of Rheumatoid Arthritis; Results From Swedish Epidemiological Investigation of Rheumatoid Arthritis Study
Xia Jiang¹, Henrik Källberg¹, Leonid Padyukov², Lars Klareskog³ and Lars Alfredsson¹, ¹Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ²Rheumatology Unit, Karolinska Institutet, Stockholm, Sweden, ³Department of Medicine, Rheumatology Unit, Karolinska Institutet, Stockholm, Sweden
Background/Purpose: Rheumatoid arthritis (RA) is believed to have a multifactorial etiology, involving both genetic and environmental components, and can be divided into two major subsets…
Abstract Number: 2654 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Association Study of Methotrexate Response Identifies Novel Genes in a Large Cohort of European Juvenile Idiopathic Arthritis Cases
Joanna Cobb¹, Erika Cule², Halima Moncrieffe³, Edward Flynn⁴, Anne Hinks¹, Fiona Patrick³, Laura Kassoumeri³, Simona Ursu⁵, Maja Bulatovic⁶, Marek Bohm⁷, Bertrand D. van Zelst⁸, Pavla Dolezalova⁹, Robert De Jonge⁸, Nico M. Wulffraat⁶, Stanton Newman¹⁰, Maria de Iorio¹¹, Lucy R. Wedderburn³ and Wendy Thomson¹, ¹Arthritis Research UK Epidemiology Unit, Manchester Academic Health Sciences Centre, Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, ²Department of Epidemiology and Biostatistics, Imperial College London, United Kingdom, ³Institute of Child Health, University College London, London, United Kingdom, ⁴Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, ⁵Rheumatology Unit, Arthritis Research UK Centre for Adolescent Rheumatology at University College London, Great Ormond Street Hospital and UCLH, University College London, London, United Kingdom, ⁶Paediatric Immunology, University Medical Centre Utrecht, Utrecht, Netherlands, ⁷First Faculty of Medicine and General Faculty Hospital, Prague, Czech Republic, ⁸Clinical Chemistry, Erasmus Medical Center, Rotterdam, Netherlands, ⁹Pediatric Rheumatology Unit, Department of Pediatrics and Adolescent Medicine, General University Hospital in Prague, Prague, Czech Republic, ¹⁰School of Community & Health Sciences, City University London, London, United Kingdom, ¹¹Department of Statistical Sciences, University College London, London, United Kingdom
Background/Purpose: The drug methotrexate (MTX) is the first line treatment for many children with Juvenile Idiopathic Arthritis (JIA). Only 45% of children treated with MTX…
Abstract Number: 2304 • 2012 ACR/ARHP Annual Meeting
Differential Association of IRAK1 and MECP2 with Specific Systemic Sclerosis Phenotypes
F. David Carmona¹, M.C. Cénit¹, L.M. Díaz-Gallo¹, Carmen P. Simeón², Patricia Carreira³, the Spanish Scleroderma Group⁴, Nicolas Hunzelmann⁵, Gabriela Riemekasten⁶, Torsten Witte⁷, Alexander Kreuter⁸, Jörg HW Distler⁹, Paul Shiels¹⁰, Jacob M. van Laar¹¹, Annemie Schuerwegh¹², Madelon C. Vonk¹³, Alexandre Voskuyl¹⁴, Carmen Fonseca¹⁵, Christopher Denton¹⁶, Ariane Herrick¹⁷, Frank C. Arnett¹⁸, Filemon K. Tan¹⁸, Shervin Assassi¹⁸, T.R.D.J. Radstake¹⁹, Maureen D. Mayes¹⁸ and Javier Martin¹, ¹Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Armilla (Granada), Spain, ²Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain, ³Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁴Granada, Spain, ⁵Department of Dermatology, University of Cologne, Cologne, Germany, ⁶Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany, ⁷Clinical Immunology and Rheumatology, Medical University Hannover, Hanover, Germany, ⁸Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, ⁹Department of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, ¹⁰University of Glasgow, Glasgow, United Kingdom, ¹¹Newcastle University, Musculoskeletal Research Group, Newcastle, United Kingdom, ¹²Leids Univ Medisch Centrum, Leiden, Netherlands, ¹³Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁴Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ¹⁵Department of Rheumatology, Royal Free Hospital, London, United Kingdom, ¹⁶Department of Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ¹⁷Musculoskeletal Research Group, University of Manchester, Salford, United Kingdom, ¹⁸Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ¹⁹Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Systemic sclerosis (SSc) is a fibrotic autoimmune disease that represents a clear example of a sex biased immune disorder. The X-chromosome gene IRAK1 has…
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…

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