ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 1966 • 2018 ACR/ARHP Annual Meeting

    Transcriptome and Methylome Integrative Molecular Analysis Uncovers a New Systemic Autoimmune Disease Classification

    Guillermo Barturen1, Sepideh Babaei2, Francesc Catala-Moll3, Zuzanna Makowska2, Antonio García-Gómez3, Anne Buttgereit4, Elena Carnero-Montoro1, Sikander Hayat4, Martin Kerick5, Thomas Charlon6, David C Gemperline7, Lucas Le Lann8, Rosa Quirantes-PIné9, Isabel Borrás-Linares10, Brian Muchmore1, Jorge Kageyama4, Javier Rodríguez-Ubreva3, Alvaro Fernández-Ochoa9, Pedro Carmona Sanz11, Christophe Jamin8, Ralf Lesche2, Robert J. Benschop7, Chris Chamberlain12, Ernst R. Dow7, Tania Gomes1, Maria Juárez13, Laurence Laigle14, Jacqueline Marovac12, Fiona MacDonald15, Jerome Wojcik6, Esteban Ballestar16, Lorenzo Beretta17, Maria Orietta Borghi18, Johan Frostegård19, Maria Luisa Garcia20, Javier Martín5, Jacques-Olivier Pers8, Yves Renadineau21, Antonio Segura Carretero9 and Marta Alarcón-Riquelme1,19, 1Medical Genomics, Center for Genomics and Oncological Research (GENYO), Granada, Spain, 2Pharmaceuticals Division, Bayer Pharma Aktiengesellschaft, Berlin, Germany, 3Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, 4Bayer Pharma Aktiengesellschaft, Berlin, Germany, 5Institute of Parasitology and Biomedicine López Neyra, Spanish National Research Council, Granada, Spain, 6QuartzBIO, SA, Geneva, Switzerland, 7Eli Lilly and Company, Indianapolis, IN, 8U1227, Université de Brest, Inserm, Labex IGO, CHU de Brest, Brest, France, 9Department of Analytical Chemistry, University of Granada, Granada, Spain, 10Analytical Chemistry, University of Granada, Granada, Spain, 11Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, 12UCB Pharma, Slough, United Kingdom, 13UCB, Slough, United Kingdom, 14Institut de Recherches Internationales Servier, Suresnes, France, 15Bayer Pharma G, Berlin, Germany, 16Cancer Epigenetics and Biology Programme (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, 17Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 18University of Milan, IRCCS Istituto Auxologico Italiano, Milan, Italy, 19Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, 20Nano-Imaging, BIONAND. Centro Andaluz de Nanotecnología y Biomedicina, Malaga, Spain, 21U1227, Université de Brest, inserm, Labex IGO, CHU de brest, Brest, France

    Background/Purpose: Systemic autoimmune diseases (SADs) are chronic inflammatory conditions with autoimmune aetiology and many common clinical features, difficulting diagnosis and adequate treatment decisions. Finding new…
  • Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting

    Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility

    Hirotaka Matsuo1, Toshihide Higashino1, Tappei Takada2, Hirofumi Nakaoka3, Yu Toyoda4, Blanka Stiburkova5, Hiroshi Nakashima6, Seiko Shimizu1, Makoto Kawaguchi7, Akiyoshi Nakayama8, Yuka Aoki1, Misaki Ishino1, Yusuke Kawamura1, Kenji Wakai9, Rieko Okada10, Tatsuo Hosoya11, Kimiyoshi Ichida12, Hiroshi Ooyama13, Hiroshi Suzuki2, Ituro Inoue3, Tanya J. Major14, Tony R. Merriman14 and Nariyoshi Shinomiya1, 1Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, 2Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, 3Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan, 4Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine,, The University of Tokyo, Tokyo, Japan, 5Department of Pediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, First Faculty of Medicine, Prague, Czech Republic, 6Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan, 7National Defense Medical College, Tokorozawa, Japan, 8Dept Integrative Physiol, National Defense Medical College, Tokorozawa, Japan, 9Nagoya University Graduate School of Medicine, Nagoya, Japan, 10Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan, 11Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan, 12Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, 13Ryougoku East Gate Clinic, Tokyo, Japan, 14University of Otago, Dunedin, New Zealand

    Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…
  • Abstract Number: 579 • 2018 ACR/ARHP Annual Meeting

    Changes in DNA Methylation Identify Response to Treatment with Methotrexate and TNF Inhibitors Among RA Patients

    Cameron Adams1, Katie Marker1, Melissa Krueger2, Lisa Barcellos1 and Lindsey A. Criswell3, 1School of Public Health, UC Berkeley, Berkeley, CA, 2UC San Francisco, San Francisco,, CA, 3University of California San Francisco, San Francisco, CA

    Background/Purpose: Epigenetic modifications including DNA methylation are implicated in the development and progression of autoimmune diseases, such as rheumatoid arthritis  [MIM 180300]. Evidence indicates that…
  • Abstract Number: 1059 • 2018 ACR/ARHP Annual Meeting

    Differentially-Utilized Transcription Factors and Enhancers in Rheumatoid Arthritis (RA) Fibroblast-like Synoviocytes

    Jonathan Mills1, Gary S. Firestein2 and Brian Pedersen2, 1Rheumatology, University of California, San Diego, San Diego, CA, 2Medicine, University of California San Diego, La Jolla, CA

    Background/Purpose: RA fibroblast-like synoviocytes (FLS) display a unique aggressive phenotype with a distinct epigenetic profile marked by altered chromatin accessibility. We hypothesized that differentially utilized…
  • Abstract Number: 1903 • 2018 ACR/ARHP Annual Meeting

    Molecular Analysis of a Skin Equivalent Tissue Culture Model System of Systemic Sclerosis Using RNA Sequencing, Epigenetic Assays, Histology, and Immunoassays

    Diana M. Toledo1, Mengqi Huang2, Yue Wang2, Bhaven K. Mehta2, Tammara A. Wood3, Avi Smith4, Yolanda Nesbeth5, Irena Ivanovska6, Brock Christensen7, Patricia A. Pioli8, Jonathan Garlick4 and Michael L. Whitfield9, 1Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 2Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 3Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 4Tufts University School of Medicine, Boston, MA, 5Celdara Medical, LLC, Lebanon, NH, 6Celdara Medical, LLC, Hanover, NH, 7Geisel School of Medicine at Dartmouth, Hanover, NH, 8Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, 9Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: The molecular mechanisms of systemic sclerosis (SSc) have been difficult to study outside of patient samples. Mouse models often lack key features of the…
  • Abstract Number: 166 • 2017 ACR/ARHP Annual Meeting

    Integrative Systems Biology Approach Identifies Key Transcription Factors and Novel Rheumatoid Arthritis (RA) and Individualized Therapeutic Targets

    RIchard Ainsworth1, Kai Zhang2, Gary S. Firestein3 and Wei Wang4, 1UC San Diego, La Jolla, CA, 2UCSD School of Engineering, San Diego, CA, 3Medicine, University of California San Diego, La Jolla, CA, 4Chemistry and Biochemistry, UC San Diego, La Jolla, CA

    Background/Purpose: The search for novel targets in RA requires novel computational methods and in silicosystems to identify non-obvious pathways that account for the diversity of…
  • Abstract Number: 1061 • 2017 ACR/ARHP Annual Meeting

    Cardiac Endothelial Cell Transcriptome Analyses Support a Pathological Role of Metabolic and Inflammasome Genes in Anti-SSA/Ro-Associated Congenital Heart Block

    Sara Rasmussen1, Robert M. Clancy2 and Jill P. Buyon2, 1Department of Medicine, Division of Rheumatology, NYU School of Medicine, New York, NY, 2NYU School of Medicine, New York, NY

    Background/Purpose: The role of Type I IFN in anti-SSA/Ro-associated Congenital Heart Block (CHB) may include an adverse consequence to the cardiac vasculature. One scenario consistent…
  • Abstract Number: 1709 • 2017 ACR/ARHP Annual Meeting

    Classical Monocytes in the Pathogenesis of Early Diffuse Cutaneous Systemic Sclerosis

    Julia Dunn1, Salina Dominguez1, Philip J. Homan1, Carla Cuda1, Dinesh Khanna2, Shervin Assassi3, Tracy M. Frech4, Harris Perlman5, Deborah R. WInter1 and Monique Hinchcliff6, 1Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, 2University of Michigan, Ann Arbor, MI, 3University of Texas McGovern Medical School, Houston, TX, 4Division of Rheumatology, University of Utah, Salt Lake City, UT, 5Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University Feinberg School of Medicine,, Chicago, IL, 6Northwestern University Institute for Public Health and Medicine, Chicago, IL

    Background/Purpose: In light of heterogeneous clinical manifestations in systemic sclerosis (SSc), transcriptional analysis of fibrotic tissue and circulating leukocytes may illuminate conserved processes driving inflammation…
  • Abstract Number: 803 • 2016 ACR/ARHP Annual Meeting

    Multi-Organ RNA-Sequencing of Systemic Sclerosis (SSc) Patients Shows Reproducible Gene Expression Profiles Across Organ Systems

    Bhaven K. Mehta1, Michael E. Johnson1, Kimberly A. Archambault1, Tammara A. Wood2, Antonia Valenzuela3, Amanda Crawford4, David Fiorentino5, Nielsen Fernandez-Becker6, Laren Becker6, Linda Nguyen6, Francesco Boin7, Paul Wolters8, Lorinda Chung9 and Michael Whitfield2, 1Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 2Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 3Stanford University School of Medicine, Stanford, CA, 4Dermatology, Stanford University, Redwood City, CA, 5Dermatology, Stanford University, Stanford, CA, 6Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, 7Rheumatology, University California San Francisco, San Francisco, CA, 8Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, 9Rheumatology, Stanford University Medical Center, Palo Alto, CA

    Background/Purpose:  While a hallmark of systemic sclerosis (SSc) is skin fibrosis, internal organ involvement is the primary cause of mortality. Pulmonary Arterial Hypertension (PAH), Interstitial…
  • Abstract Number: 2033 • 2016 ACR/ARHP Annual Meeting

    A Multi-Dimensional Genomic Map for Polyarticular Juvenile Idiopathic Arthritis

    James Jarvis1, Lisha Zhu2, Kaiyu Jiang3, Michael Buck2, Yanmin Chen3, Halima Moncrieffe4, Laura Brungs4, Tao Liu5 and Ting Wang6, 1Pediatrics, SUNY Buffalo School of Medicine, Buffalo, NY, 2Biochemistry, University at Buffalo, Buffalo, NY, 3Pediatrics, University at Buffalo, Buffalo, NY, 4Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5Department of Biochemistry, University at Buffalo, Buffalo, NY, 6Genetics, Washington University School of Medicine, St. Louis, MO

    Background/Purpose: Polyarticular juvenile idiopathic arthritis (JIA) is a complex trait characterized by gene-environment interactions. While we are beginning to identify multiple genomic regions associated with…
  • Abstract Number: 2273 • 2016 ACR/ARHP Annual Meeting

    Trans-Ancestral Meta-Analysis Identifies Nine New Loci Associated with Serum Uric Acid Concentrations

    James Boocock1, Eli A. Stahl2, David B. Mount3, Tony R. Merriman4, Hyon K. Choi5, Yukinori Okada6, Murray Cadzow1 and Ruth Topless1, 1University of Otago, Dunedin, New Zealand, 2Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, 3Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 4Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, 5Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 6Osaka University, Osaka, Japan

      Background/Purpose: Serum uric acid is an important biomarker for gout disease and kidney function. Genome-wide association study (GWAS) meta-analyses have identified 28 loci in…
  • Abstract Number: 2426 • 2016 ACR/ARHP Annual Meeting

    Transcriptomic Analysis of Immune Subsets in Juvenile Dermatomyositis before and after Treatment Identifies Novel Pathways Involved in Pathogenesis

    Claire Deakin1, Georg Otto2,3, Meredyth Wilkinson4, Stefanie Dowle2,3, Stefania Simou5, Lucy Marshall6, Elizabeth Rosser6, Daniel Kelberman2,3, Lucy R Wedderburn6,7,8 and Juvenile Dermatomyositis Research Group (JDRG), 1Infection, Inflammation and Rheumatology Section,, UCL Institute of Child Health, London, United Kingdom, 2Genetics & Genomic Medicine Programme, UCL Institute of Child Health, London, United Kingdom, 3National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, 4Division of Medicine, University College London, London, United Kingdom, 5Infection, Inflammation and Rheumatology, UCL Institute of Child Health, London, United Kingdom, 6Infection, Inflammation and Rheumatology Section, UCL Institute of Child Health, London, United Kingdom, 7Arthritis Research UK Centre for Adolescent Rheumatology, University College London, London, United Kingdom, 8Rheumatology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom

    Background/Purpose:  Although proximal muscle weakness and skin rash are the typical features of juvenile dermatomyositis (JDM), little is known about disease pathogenesis, why other features…
  • Abstract Number: 3175 • 2016 ACR/ARHP Annual Meeting

    Longitudinal Analysis of MMF Clinical, Molecular, and Immunohistochemistry (IHC) Responses Shows SSc Patients Lose Their Inflammatory Signature and Rebound upon Treatment Cessation

    Diana Toledo1, Monique Hinchcliff2, Jaclyn Taroni1, Tammara A. Wood3, Jennifer Franks3, Sanjiv Shah4, Rishi Agrawal4, Lauren Beussink-Nelson4, Mary A. Carns5, Sofia Podlusky6, Patricia Pioli7 and Michael Whitfield3, 1Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 2Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, 3Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 4Northwestern University, Chicago, IL, 5Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL, 6Rheumatology Feinberg School of Medicine, Northwestern University, Chicago, IL, 7Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: We previously showed patients in the inflammatory subset were most likely to demonstrate improvement in modified Rodnan Skin Score (mRSS) during mycophenolate mofetil (MMF)…
  • Abstract Number: 1022 • 2015 ACR/ARHP Annual Meeting

    Identification of Shared Genomic Regions in Distantly Related Pairs of Cases with Juvenile Idiopathic Arthritis

    Sampath Prahalad1, K. Alaine Broadaway2, John F. Bohnsack3, Ann Dodd2, Aimee O. Hersh4, Sheila T. Angeles-Han1, Se Ryeong Jang1, Marc Sudman5, Susan D. Thompson6, Michael Zwick7, Karen Conneely2 and Michael Epstein2, 1Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, 2Emory University School of Medicine, Atlanta, GA, 3Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT, 4Pediatrics/Rheumatology, University of Utah, Salt Lake City, UT, 5Divison of Rheumatology, Childrens Hospital Med Ctr, Cincinnati, OH, 6Rheumatology Dept, Childrens Hospital Med Ctr, Cincinnati, OH, 7Human Genetics, Emory University School of Medicine, Atlanta, GA

    Background/Purpose: Juvenile idiopathic arthritis (JIA) is a complex genetic trait. While several risk variants have been identified using genome wide studies, a substantial component of…
  • Abstract Number: 1888 • 2014 ACR/ARHP Annual Meeting

    PU.1, Mitf, and Their Novel Co-Partner, Eomes, Set up a Transcription Factor Network That Is Critical for Osteoclast Differentiation

    Heather Carey1, Sankha Ghosh1, Eason Hildreth III2, Jennifer Cabrera1, Dias Kurmashev1, Wael N. Jarjour3, Ramiro Toribio2, Sudarshana Sharma1 and Michael Ostrowski1, 1Molecular and Cellular Biochemistry, The Ohio State University, Columbus, OH, 2Veterinary Clinical Sciences, The Ohio State University, Columbus, OH, 3Dept of Rheumatology/Medicine, The Ohio State University Wexner Medical Center, Columbus, OH

    Background/Purpose Osteoclasts are bone resorbing cells which differentiate from myeloid precursors. The crosstalk between osteoblasts and osteoclasts tightly regulates the dynamic and continuous process of…
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