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…
Abstract Number: 1683 • 2012 ACR/ARHP Annual Meeting
Associations Between Lipid and Rheumatoid Arthritis Genetic Factors, and Low Density Lipoprotein Levels in RA Patients
Katherine P. Liao¹, Dorothee Diogo², Tianxi Cai³, Jing Cui⁴, Raul N. Guzman P.⁵, Vivian Gainer⁵, Shawn N. Murphy⁵, Susanne Churchill⁶, Isaac Kohane⁷, Elizabeth W. Karlson¹ and Robert M. Plenge⁸, ¹Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Biostatistics, Harvard School of Public Health, Boston, MA, ⁴Department of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, ⁵Research Computing, Partners Healthcare Systems, Boston, MA, ⁶Information Systems, Partners Healthcare Systems, Boston, MA, ⁷Medicine, Brigham and Women's Hospital, Boston, MA, ⁸Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Associations between lipid and rheumatoid arthritis genetic factors, and low density lipoprotein levels in RA patientsBackground/Purpose: In epidemiologic studies, low density lipoprotein (LDL), a major…
Abstract Number: 729 • 2012 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants Underlie Racial Disparities in Lupus Nephritis-Induced End-Stage Renal Disease
Robert P. Kimberly¹, Barry I. Freedman², Carl D. Langfeld³, Devin Absher⁴, Kelly K. Andringa¹, Daniel Birmingham⁵, Elizabeth E. Brown⁶, Mary E. Comeau⁷, Karen H. Costenbader⁸, Lindsey A. Criswell⁹, Jeffrey C. Edberg¹⁰, John B. Harley¹¹, Judith A. James¹², Diane L. Kamen¹³, Joan T. Merrill¹⁴, Timothy B. Niewold¹⁵, Neha Patel¹⁶, Michelle Petri¹⁷, Rosalind Ramsey-Goldman¹⁸, Jane E. Salmon¹⁹, Mark Segal²⁰, Kathy Moser Sivils¹², Betty P. Tsao²¹, Bruce A. Julian¹ and Lupus Nephritis-ESRD Consortium²², ¹Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ²Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, ³Department of Biostatistics, Wake Forest University Health Sciences, Winston-Salem, NC, ⁴HudsonAlpha Institute for Biotechnology, Huntsville, AL, ⁵Medicine, Ohio State University Medical Center, Columbus, OH, ⁶University of Alabama at Birmingham, Birmingham, AL, ⁷Wake Forest University Health Sciences, Winston-Salem, NC, ⁸Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁹Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹⁰Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ¹¹Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ¹²Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹³Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, ¹⁴Clinical Pharmacology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ¹⁶Rheumatology, SUNY Downstate Medical Center, Brooklyn, NY, ¹⁷Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁸Medicine/Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ¹⁹Rheumatology, Hospital for Special Surgery, New York, NY, ²⁰Medicine/Nephrology, University of Florida, Gainesville, FL, ²¹Medicine/Rheumatology, UCLA School of Medicine, Los Angeles, CA, ²²Medicine, Birmingham, AL
Background/Purpose: The G1 and G2 coding variants in the apolipoprotein L1 gene (APOL1; G1: a compound missense allele (glycine-342/methionine-384) and G2: an in-frame deletion (deletion…

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