Abstracts tagged "Gene Expression"

Abstract Number: 1472 • 2018 ACR/ARHP Annual Meeting
Preliminary Analysis of Genetic Variants in the Immune System Related to the Body Mass Index in Early Arthritis Patients
Pablo Moreno Fresneda¹, Nuria Montes², Javier Martin³, David Carmona⁴, Carmen Martinez⁵, Rosa P Gomariz⁶, Amalia Lamana², Ana Triguero-Martinez⁷, Ana M. Ortiz Garcia⁸ and Isidoro Gonzalez-Alvaro⁹, ¹Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ²Rheumatology, HU La Princesa, Madrid, Spain, ³Instituto de Parasitología y Biomedicina López Neyra, Granada, Spain, ⁴Genetics, Universidad de Granada, Granada, Spain, ⁵Cellular Biology, School of Medicine. Universidad Complutense de Madrid, Madrid, Spain, ⁶Cellular Biology, School of Biology. Universidad Complutense de Madrid, Madrid, Spain, ⁷Rheumatology Service, Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa, Madrid, Spain, ⁸Rheumatology, Rheumatology Service, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ⁹Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain
Background/Purpose: We have observed in previous analyzes in our early arthritis (EA) cohort that patients with a higher body mass index (BMI) are, more frequently,…
Abstract Number: 2113 • 2018 ACR/ARHP Annual Meeting
Identification of RNASE2 As a Novel Lupus Candidate Gene
Yang Xu, Xiaojun Tang and Xuebing Feng, Department of Rheumatology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China
Background/Purpose: Although many factors have been implicated to be involved in the development of systemic lupus erythematosus (SLE), the pathogenesis of this prototypical autoimmune disease…
Abstract Number: 112 • 2018 ACR/ARHP Annual Meeting
Evidence for Altered Peroxisome Proliferator Activated Receptor (PPAR) Pathway Activity in a Transgenic Mouse Model of Scleroderma (TβRIIΔk-fib): Analysis of Mouse Skin, Lung and Explanted Cells
Emma C. Derrett-Smith^1,2, Shiwen Xu¹, Rachel K. Hoyles³, Olivier Lacombe⁴, Pierre Broqua⁴, Jean-Louis Junien⁴, Irena Konstantinova⁵ and Christopher P. Denton^6,7, ¹Division of Medicine, University College London, London, United Kingdom, ²Rheumatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom, ³Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom, ⁴Inventiva, DAIX, France, ⁵Inventiva, Daix, France, ⁶UCL Division of Medicine, Royal Free Campus, London, United Kingdom, ⁷Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom
Background/Purpose: The TβRIIΔk-fib transgenic (TG) mouse model of scleroderma carries a fibroblast-specific TGFβ receptor II mutation resulting in balanced up-regulation of TGFβ signalling and replicates…
Abstract Number: 1571 • 2018 ACR/ARHP Annual Meeting
RNA Sequencing Detection of Gene Dysregulation in Epithelial Cells Sorted from Salivary Gland Tissue Reveals Interesting Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology
Elodie Rivière^1,2, Nicolas Tchitchek¹, Gaetane Nocturne^1,3, Juliette Pascaud¹, Alexandre Virone¹, Saida Boudaoud¹, Alice Thai⁴, Normand Allaire⁴, Bernd Jagla⁵, Michael Mingueneau⁴ and Xavier Mariette^1,3, ¹Immunology of viral Infections and Autoimmune Diseases, IDMIT, CEA - Université Paris Sud - INSERM U1184, Le Kremlin Bicêtre & Fontenay aux Roses, France, ²Arthritis Fondation Courtin, Paris, France, ³Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, ⁴Immunology Research, Biogen, Cambridge, MA, ⁵Biomarker Discovery Platform UTechS CB, Hub de Bioinformatique et biostatistique C3IB, Institut Pasteur, Paris, France
Background/Purpose: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Several lines of evidence support…
Abstract Number: 2130 • 2018 ACR/ARHP Annual Meeting
Interferon Induced Gene Transcripts Are Differentially Upregulated in the Kidney of Lupus Nephritis Patients Irrespective of Activity or Damage
S. Sam Lim¹, Alton B Farris¹, Tobias Guennel², Shiliang Wang³, Jason Cobb¹, Dominic Sinibaldi⁴, Scott Jenks¹, Ignacio Sanz¹, Xiang Guo³, Gabor Illei⁵, Kui Shen², Monica Battle¹, Chungwen Wei¹ and WI White³, ¹Emory University School of Medicine, Atlanta, GA, ²Precision for Medicine, Frederick, MD, ³MedImmune, Gaithersburg, MD, ⁴MedImmune, Gaithersberg, MD, ⁵Viela Bio, Gaithersburg, USA, Gaithersberg, MD
Background/Purpose: Lupus nephritis (LN) afflicts 12-69% lupus patients. Even with the best available therapies, complete response is achieved in only 10-85% of patients. The risk…
Abstract Number: 125 • 2018 ACR/ARHP Annual Meeting
Monocyte Transcriptome Delineates SSc Patients with Functionally Distinct Patterns of Gene Dysregulation That Persist through Differentiation
Julia L.M. Dunn¹, Philip J. Homan², Salina Dominguez¹, Carla M. Cuda¹, Kathleen Aren³, Mary A. Carns^3,4, Tracy M. Frech⁵, Dinesh Khanna⁶, Shervin Assassi⁷, Harris Perlman¹, Monique Hinchcliff¹ and Deborah R. Winter¹, ¹Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ²Division of Rheumatology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, ³Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁴Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Division of Rheumatology, University of Utah, Salt Lake City, UT, ⁶Division of Rheumatology, University of Michigan, Ann Arbor, MI, ⁷Rheumatology, University of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: The etiology and pathogenesis of SSc are poorly understood; however, an increasing body of evidence supports an early inflammatory phase that precedes, and may…
Abstract Number: 1665 • 2018 ACR/ARHP Annual Meeting
Longitudinal Stratification of Gene Expression Reveals Three SLE Groups of Disease Activity Progression
Daniel Toro¹, Jordi Martorell-Marugán², Daniel Goldman³, Michelle Petri⁴, Pedro Carmona Sanz⁵ and Marta Alarcón-Riquelme^6,7, ¹Bioinformatics and Medical Genomics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Ganada, Spain, ²Bioinformatics Unit, Center for Genomics and Oncological Research (GENYO), Granada, Spain, ³Medicine (Rheumatology), Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, ⁶Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ⁷Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain
Background/Purpose: The highly heterogeneous clinical presentation of lupus is characterized by the unpredictable appearance of flares of disease activity and important organ damage. Attempts to…
Abstract Number: 2238 • 2018 ACR/ARHP Annual Meeting
Non-Coding Urate-Associated Variants Function in a Conserved Lincrna Regulatory Domain That Alters MAF transcription
Megan Leask¹, Tony R. Merriman¹, Amy Dowdle¹, Hamish Salvesen¹, Ruth Topless¹, Tayaza Fadason², Wenhua Wei¹, William Schierding², Justin O'Sullivan² and Julia Horsfield¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Genome-wide association studies (GWAS) have revealed that the large majority of disease-associated single nucleotide polymorphisms (SNPs) are located in the non-coding regions of the…
Abstract Number: 154 • 2018 ACR/ARHP Annual Meeting
Epigenetic Editing of FOXP3 in Human T Cells Is Sufficient to Induce Overexpression and Create a Regulatory T Cell Phenotype in Vitro
Christopher Dunn¹, Cassandra Velasco¹, Madison Andrews², Alexander Rivas³ and Matlock A. Jeffries⁴, ¹Rheumatology, Immunology, and Allergy, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³University of Arkansas for Medical Sciences, Little Rock, AR, ⁴Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Defects in the number and function of naturally-occurring regulatory T cells (Tregs) have been identified in a variety of autoimmune diseases. The development of…
Abstract Number: 1718 • 2018 ACR/ARHP Annual Meeting
Skin Gene Expression Profiling Predicts Longitudinal Modified Rodnan Skin Score Change
Chase Correia¹, Mary A. Carns², Kathleen Aren², Monique Hinchcliff³ and J. Matthew Mahoney⁴, ¹Rheumatology, Northwestern Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ³Rheumatology, Northwestern University, Chicago, IL, ⁴Neurological Sciences, University of Vermont College of Medicine, Burlington, VT
Background/Purpose: Systemic sclerosis (SSc) causes varying degrees of skin fibrosis with varying trajectory. Extent of skin involvement is measured by the modified Rodnan skin score…
Abstract Number: 2684 • 2018 ACR/ARHP Annual Meeting
Type I IFN, TLR7, MHC Class I, B Cell and OX40 Pathways Suppressed By Anifrolumab (anti-type I IFN receptor) in Moderate to Severe SLE Patients
Katie Streicher¹, Jixin Wang¹, Philip Z. Brohawn², Brandon W. Higgs², Raj Tummala³ and Koustubh Ranade⁴, ¹Translational Medicine, MedImmune, Gaithersburg, MD, ²MedImmune LLC, Gaithersburg, MD, ³MedImmune, Gaithersburg, MD, ⁴Translational Medicine, MedImmune LLC, Gaithersburg, MD
Background/Purpose: Type I interferon has been identified as one of the central mediators in the pathogenesis of SLE, such that patients are characterized by activation…
Abstract Number: 807 • 2018 ACR/ARHP Annual Meeting
The Effects of DNA Methylation on Differential Expression in Dermal Fibroblasts from African-American Patients with Systemic Sclerosis
DeAnna Baker Frost¹, Willian da Silveira², Ilia Atanelishvili³, Robert C. Wilson⁴, E. Starr Hazard², Jim C. Oates⁵, Galina S. Bogatkevich³, Carol A. Feghali-Bostwick⁶, Gary Hardiman⁷ and Paula S. Ramos⁸, ¹Medicine, Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, ²Center for Genomic Medicine, Medical University of South Carolina, Charleston, SC, ³Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁴Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, ⁵Division of Rheumatology & Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁶Department of Medicine, Medical University of South Carolina, Division of Rheumatology and Immunology, Charleston, SC, ⁷Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁸Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC
Background/Purpose: The etiology and reasons underlying the ethnic disparities in systemic sclerosis (SSc) remain unknown. African-Americans (AA) are disproportionally affected by SSc, yet dramatically underrepresented…
Abstract Number: 1876 • 2018 ACR/ARHP Annual Meeting
Machine Learning Classification of Peripheral Blood Gene Expression Identifies a Subset of Patients with Systemic Sclerosis Most Likely to Show Clinical Improvement in Response to Hematopoietic Stem Cell Transplant
Jennifer Franks¹, Viktor Martyanov², Tammara A. Wood², Leslie Crofford³, Lynette Keyes-Elstein⁴, Daniel E. Furst⁵, Ellen Goldmuntz⁶, Maureen D. Mayes⁷, Peter McSweeney⁸, Richard Nash⁸, Keith Sullivan⁹ and Michael L. Whitfield¹⁰, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ⁴Rho, Inc, Chapel Hill, NC, ⁵University of California Los Angeles, Los Angeles, CA, ⁶NIAID, NIH, Bethesda, MD, ⁷Rheumatology, University of Texas McGovern Medical School, Houston, TX, ⁸Colorado Blood Cancer Institute, Denver, CO, ⁹Duke University Medical Center, Durham, NC, ¹⁰Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: The SCOT (Scleroderma: Cyclophosphamide or Transplantation) trial (Sullivan K. et al, 2018) demonstrated the clinical benefit of hematopoietic stem cell transplant (HSCT) compared to…
Abstract Number: 2933 • 2018 ACR/ARHP Annual Meeting
Non-Invasive Tape Sampling Reveals RNA Gene Clusters in Cutaneous Lupus Erythematosus That Discriminate Affected from Unaffected and Healthy Volunteer Skin
Joseph F. Merola¹, Wenting Wang², Carrie Wager³, Stefan Hamann², Xueli Zhang³, Alice Thai², Chris Roberts², Christina Lam⁴, Cristina Musselli², Galina Marsh², Dania Rabah², Catherine Barbey⁵, Nathalie Franchimont² and Taylor L. Reynolds², ¹Clinical Unit for Research Innovation & Trials, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Biogen, Cambridge, MA, ³Formerly of Biogen, Cambridge, MA, ⁴Boston University Medical School, Boston, MA, ⁵Biogen, Zug, Switzerland
Background/Purpose: Punch biopsy, the standard diagnostic and monitoring procedure for patients with cutaneous lupus erythematosus (CLE), impedes patient recruitment and follow up due to risk…
Abstract Number: 853 • 2018 ACR/ARHP Annual Meeting
Enhanced Type I Interferon Gene Signature in Primary Antiphospholipid Syndrome: Association with Earlier Disease Onset and Preeclampsia
Michelle Lopes¹, Giovana Torrezan², Ana Paula Gandara¹, Eloisa Olivieri³, Iana Nascimento¹, Erica Okazaki⁴, Eloisa Bonfa⁵, Dirce Carraro⁶ and Danieli Andrade¹, ¹Rheumatology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ²Genomics and Molecular Biology Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ³Macromolecules Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ⁴Hemathology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁵Rheumatology Division, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁶Division of Genomic Diagnostics, AC Camargo Cancer Center, São Paulo, Brazil
Background/Purpose: Primary antiphospholipid syndrome (PAPS) is an autoimmune vasculopathy mediated by autoantibodies with thrombosis as its main clinical manifestation. The presence of antiphospholipid antibodies, while…

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