Abstracts tagged "genomics"

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…
Abstract Number: 660 • 2012 ACR/ARHP Annual Meeting
Abnormal Neutrophil Development in Human Systemic Lupus Erythematosus
Namrata Singh¹, Mariana J. Kaplan², Philip L. Cohen³ and Michael F. Denny³, ¹Internal Medicine, Temple University, Philadelphia, PA, ²Systemic Autoimmunity Branch, National Institutes of Health/NIAMS, Bethesda, MD, ³Rheumatology, Temple University, Philadelphia, PA
Background/Purpose: Recent research has increased the appreciation of the contributions of neutrophils to systemic lupus erythematosus (SLE). An abnormal circulating pool of granulocytes has been…
Abstract Number: 1475 • 2012 ACR/ARHP Annual Meeting
Does Skin Gene Expression Profile Predict Response to Imatinib?
Shervin Assassi¹, Jeffrey T. Chang², Dinesh Khanna³, Xiaochun Liu¹, Daniel Furst⁴ and Maureen D. Mayes⁵, ¹Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, ²University of Texas Health Science Center at Houston, Houston, TX, ³Division of Rheumatology, University of Michigan Medical Center, Ann Arbor, MI, ⁴David Geffen School of Medicine, Div of Rheumatology, University of California at Los Angeles, Los Angeles, CA, ⁵Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: Imatinib is a potent inhibitor of TGF-β signaling. Furthermore, a subgroup of SSc patients shows a prominent TGF-β gene expression signature in skin biopsy…
Abstract Number: 522 • 2012 ACR/ARHP Annual Meeting
Genetic Variation in the NCR3 Locus Is Associated with Anti-SSA⁄SSB Positive Primary Sjögren′s Syndrome in Scandinavian Samples
Gunnel Nordmark¹, Maija-Leena Eloranta¹, Per Eriksson², Elke Theander³, Helena Forsblad-d'Elia⁴, Roald Omdal⁵, Marie Wahren-Herlenius⁶, Roland Jonsson⁷ and Lars Rönnblom¹, ¹Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Rheumatology/AIR, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden, ³Dept of Rheumatology, Skane University Hospital, Lund University, Malmö, Sweden, ⁴Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden, ⁵Department of Internal Medicine, Stavanger university Hospital, Stavanger, Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, ⁶Dept of Medicine, Karolinska Institutet, Stockholm, Sweden, ⁷Broegelmann Research Laboratory, the Gade Institute, University of Bergen, Bergen, Norway
Background/Purpose: Candidate gene studies in primary Sjögren’s syndrome (pSS) have identified polymorphisms in genes involved in the type I interferon (IFN) system and the type…
Abstract Number: 1180 • 2012 ACR/ARHP Annual Meeting
The Sex-Determining Region Y Box 6 Locus: Shared Genetic Susceptibility Between Rheumatoid Arthritis and Psychotic Disorder
Tony R. Merriman¹, Nicola Dalbeth², Andrew Harrison³, John Highton⁴, Lisa K. Stamp⁵, Malcolm D. Smith⁶, Benedicte A. Lie⁷, Tore K. Kvien⁸, Timothy Radstake⁹, Marieke J.H. Coenen¹⁰, Barbara Franke¹¹, Jasper Broen¹², Piet Van Riel¹³, Pilar Barrera¹⁴, Sophia Steer¹⁵, Marilyn E. Merriman¹, Amanda Phipps-Green¹, Ruth Topless¹, Mansour Zamanpoor¹⁶ and Wan Rohani Wan Tain¹⁷, ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²Medicine, University of Auckland, Auckland, New Zealand, ³Rheumatology Unit, Hutt Hospital, Lower Hutt, New Zealand, ⁴Dept of Medicine, Univ of Otago Med Sch, Dunedin, New Zealand, ⁵Department of Medicine, University of Otago, Christchurch, Christchurch, New Zealand, ⁶Rheumatology Research Unit, Rheumatologist, Adelaide, Australia, ⁷Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, ⁸Dept. of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway, ⁹Rheumatology, Radboud University Nijmegen Medical Centre, University Medical Center Utrecht, Nijmegen, Utrecht, Netherlands, ¹⁰Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹¹Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹²Department of Rheumatology & Clinical Immunology, University Medical Center, Utrecht, Netherlands, ¹³Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁴Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁵1 Sloane Ct East Flat 7, London, United Kingdom, ¹⁶University of Otago, Dunedin, New Zealand, ¹⁷Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Malaysia
Background/Purpose: Rheumatoid arthritis (RA) is a common autoimmune disease and schizophrenia (SZ) is a common psychotic disorder. There is an established negative association between RA…
Abstract Number: 433 • 2012 ACR/ARHP Annual Meeting
Genome Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with Anti-TNF Medication. Results of the DREAM and Danbio Registries
Marieke J.H. Coenen¹, Masha Umicevic-Mirkov², Hans Scheffer², Sophine B. Krintel³, Sita H. Vermeulen⁴, Julia S. Johansen³, Wietske Kievit⁵, Mart A.F.J. van de Laar⁶, Piet L.C.M. van Riel⁵, Barbara Franke² and Merete L. Hetland⁷, ¹Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ²Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ³DANBIO and Department of Rheumatology, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, ⁴Human Genetics and Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁵Department of Rheumatology and DREAM registry, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁶Department of Rheumatology and DREAM registry, Medisch Spectrum Twente & Twente University, Enschede, Netherlands, ⁷Copenhagen University Hospital Glostrup, Copenhagen, Denmark
Background/Purpose: Patients with rheumatoid arthritis (RA) rate pain relief as the highest priority in treatment outcome, and tumor necrosis factor inhibitors (anti-TNF) have proven very…

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