Abstracts tagged "genomics"

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: 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 Otto^2,3, Meredyth Wilkinson⁴, Stefanie Dowle^2,3, Stefania Simou⁵, Lucy Marshall⁶, Elizabeth Rosser⁶, Daniel Kelberman^2,3, Lucy R Wedderburn^6,7,8 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…
Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting
Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter
David B. Mount^1,2, Tony R. Merriman³, Eli A. Stahl⁴, Hyon K. Choi⁵ and Asim Mandal¹, ¹Renal Division, Brigham and Women's Hospital, Boston, MA, ²Renal Division, VA Boston Healthcare System, Boston, MA, ³Department of Biochemistry, University of Otago, Dunedin, New Zealand, ⁴Mt Sinai School of Medicine, New York City, NY, ⁵Boston University School of Medicine, Boston, MA
Background/Purpose: Variation in SLC2A9, which encodes the urate transporter GLUT9, is the major single genetic determinant of serum uric acid (SUA); however, the causal variant(s)…
Abstract Number: 782 • 2014 ACR/ARHP Annual Meeting
Temporal Artery Microbiome in Giant Cell Arteritis
Alison Clifford*¹, Pauline Funchain*^2,3,4, Lisa Lystad⁵, Charissa Peterson⁴, Jessica Altemus⁴, Gary S. Hoffman¹ and Charis Eng^2,3,4,6, ¹Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH, ²Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, OH, ³Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH, ⁴Genomic Medicine Institute, Lerner Research Institute, Cleveland, OH, ⁵Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, ⁶Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH
Background/Purpose: Whether infectious agents play a part in giant cell arteritis (GCA) remains controversial. We have performed the first microbiome study of snap-frozen temporal arteries,…
Abstract Number: 772 • 2014 ACR/ARHP Annual Meeting
RNA-Seq and Mir-Seq Analysis of SSc Skin Across Intrinsic Gene Expression Subsets Shows Differential Expression of Non-Coding RNAs Regulating SSc Gene Expression
Zhenghui Li¹, Eleni Marmarelis², Kun Qu³, Lionel Brooks⁴, Patricia Pioli⁴, Howard Chang³, Robert Lafyatis⁵ and Michael Whitfield⁴, ¹Department of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Stanford University School of Medicine, Stanford, CA, ⁴Geisel School of Medicine at Dartmouth, Hanover, NH, ⁵Arthritis Center, Boston University, Boston, MA
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease with a heterogenous and complex phenotype. Previously, our lab has identified four gene expression subsets (fibroproliferative,…
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…

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