Abstracts tagged "genomics"

Abstract Number: 1702 • 2013 ACR/ARHP Annual Meeting
Identification of Multiple Genetic Susceptibility Loci in Takayasu’s Arteritis
Guher Saruhan-Direskeneli¹, Travis Hughes², Patrick S. Coit², Joel M. Guthridge³, Judith A. James⁴, Peter A. Merkel of behalf of the Vasculitis Clinical Research Consortium⁵, Haner Direskeneli on behalf of the Turkish Takayasu Study Group⁶ and Amr H. Sawalha², ¹Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ²Division of Rheumatology, University of Michigan, Ann Arbor, MI, ³Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ⁶Department of Rheumatology, Marmara University, Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Takayasu’s arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu’s arteritis remains poorly understood, but genetic contribution to the disease…
Abstract Number: 1633 • 2013 ACR/ARHP Annual Meeting
Sub-Phenotype Mapping In Systemic Lupus Erythematosus Identifies Multiple Novel Loci Associated With Circulating Interferon Alpha
Silvia Kariuki¹, Yogita Ghodke², Jessica M. Dorschner², Beverly Chrabot³, Jennifer A. Kelly⁴, Betty P. Tsao⁵, Robert P. Kimberly⁶, Marta E. Alarcon-Riquelme⁷, Chaim O. Jacob⁸, Lindsey A. Criswell⁹, Kathy L. Sivils¹⁰, Carl D. Langefeld¹¹, John B. Harley¹², Andrew D. Skol¹ and Timothy B. Niewold², ¹Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ⁴Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ⁶Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁷Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, Oklahoma City, OK, ⁸Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, ⁹Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹⁰Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹¹Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ¹²Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a phenotypically heterogeneous complex disease. Our previous work has documented significant genetic heterogeneity, with some well-validated risk factors demonstrating…
Abstract Number: 1634 • 2013 ACR/ARHP Annual Meeting
Genome-Wide Transcriptional Profiling Of Isolated Immune Cell Populations From SLE Patients With Different Ancestral Backgrounds
Shruti Sharma¹, Zhongbo Jin², Elizabeth Rosenzweig³, Swapna Rao⁴, Kichul Ko⁴ and Timothy B. Niewold², ¹Gwen Knapp Center for Lupus Research, University of Chicago, Chicago, IL, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ⁴Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex multi-system autoimmune disease of uncertain etiology. Different ancestral backgrounds demonstrate different clinical manifestations and autoantibody profiles. Whole…
Abstract Number: 165 • 2013 ACR/ARHP Annual Meeting
New Insights Into The Metabolic Origin Of Osteoarthritis
Ignacio Rego-Pérez¹, María Eugenia Vázquez-Mosquera², Angel Soto-Hermida², Mercedes Fernández-Moreno², Juan Fernández-Tajes², Estefanía Cortés-Pereira², Sara Relaño-Fernández², Natividad Oreiro-Villar², Carlos Fernández-López² and Francisco J. Blanco^3,4,5, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²INIBIC-Hospital Universitario A Coruña. Rheumatology Division. Genomic Group, A Coruña, Spain, ³INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ⁴CIBER-BBN-ISCIII, Madrid, Spain, ⁵Proteo-Red/ISCIII, Madrid, Spain
Background/Purpose: Metabolic alterations take place in osteoarthritis (OA) and the mtDNA haplogorups influence the prevalence and severity of the disease. The aim of this work…
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…
Abstract Number: 1630 • 2012 ACR/ARHP Annual Meeting
Genetic Variants of Serum Uric Acid and Gout: An Analysis of > 170,000 Individuals
Hyon Choi¹, Robert M. Plenge², Anna Köttgen³, Veronique Vitart⁴, Murielle Bochud⁵, Christian Gieger⁶, Mark Caulfield⁷, Marina Ciullo⁸, Eva Albrecht⁶, Alexander Teumer⁹, Gary Curhan¹⁰, Jan Krumsiek¹¹, Conall O'Seaghdha¹², Caroline Fox¹³ and The Global Urate Genetics Consortium (GUGC)¹⁴, ¹Section of Rheumatology and the Clinical Epidemiology Unit, Boston University School of Medicine, Boston, MA, ²Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Renal Division, Freiburg University Hospital, Freiburg, Germany, ⁴Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom, ⁵Institute of Social and Preventive Medicine (IUMSP), Lausanne University Hospital, Switzerland, ⁶German Research Center for Environmental Health, Neuherberg, Germany, ⁷William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ⁸Institute of Genetics and Biophysics, "A. Buzzati-Traverso", Italy, ⁹Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt- University Greifswald, Greifswald, Germany, ¹⁰German Research Center for Environmental Health, Harvard Medical School, Boston, MA, ¹¹Institute of Bioinformatics and Systems Biology, German Research Center for Environmental Health, Neuherberg, Germany, ¹²German Research Center for Environmental Health, NHLBI's Framingham Heart Study and Center for Population Studies,, Neuherberg, ¹³Institute of Genetics and Biophysics, NHLBI's Framingham Heart Study and Center for Population Studies, Framingham, MA, ¹⁴Section of Rheumatology and the Clinical Epidemiology Unit, Boston University of School of Medicine, Boston, MA
Background/Purpose: Gout is a common and excruciatingly painful inflammatory arthritis caused by hyperuricemia. In addition to various lifestyle risk factors, a substantial genetic predisposition to…

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