Abstracts tagged "Functional Genomics"

Abstract Number: 1928 • 2019 ACR/ARP Annual Meeting
Identification of Immunological Processes Associated with the Response to Abatacept in Rheumatoid Arthritis Using Longitudinal Blood RNA-seq Analysis
Antonio Julià¹, Maria Lopez Lasanta ², Antonio Gómez ³, Irene Bonafonte ⁴, Raimon Sanmartí ⁵, Carlos Marras ⁶, José Manuel Pina ⁷, Susana Romero-Yuste ⁸, Raul Veiga ⁹, Pilar Navarro ⁹, Carmen Moragues Pastor ¹⁰, Silvia Martínez ¹¹, Francisco J. De Toro ¹², Amalia Sanchez ¹³, Dacia Cerdà ¹⁴, Alejandro Prada ¹⁵, Alba Erra ¹⁶, Jordi Monfort ¹⁷, A. Urruticoechea-Arana ¹⁸, Núria Palau ¹⁹, Raquel Lastra ²⁰, Raúl Tortosa ³, Andrea Pluma ²¹ and Sara Marsal ²², ¹Rheumatology Research Group, Vall d’Hebron Hospital Research Institute, Barcelona, Spain., Barcelona, Catalonia, Spain, ²Hospital Universitari Vall Hebrón, Barcelona, Barcelona, Catalonia, Spain, ³Hospital Vall d'Hebron, Barcelona, Barcelona, Spain, ⁴Vall Hebron Hospital Research Institute, Barcelona, Spain, ⁵Hospital Clínic, Barcelona, Barcelona, Spain, ⁶Hospital Universitario Virgen de la Arrixaca, Murcia, Murcia, Spain, ⁷Hospital de Barbastro, Huesca, Barbastro, Huesca, Spain, ⁸Complejo Hospitalario Universitario Pontevedra, Pontevedra, Galicia, Spain, ⁹Hospital Universitario Fuenlabrada, Fuenlabrada, Spain, ¹⁰Platò Hospital, Barcelona, Spain, Barcelona, Spain, ¹¹Hospital Universitari Mútua Terrassa, Terrassa, Spain, ¹²University Hospital A Coruña, A Coruña, Spain, ¹³Hospital Universitario Lucus Augusti, Lugo, Lugo, Spain, ¹⁴Hospital Moisès Broggi, Sant Joan Despí, Sant Joan Despí, Spain, ¹⁵Hospital Universitario Torrejón de Ardoz, Torrejón de Ardoz, Spain, ¹⁶Hospital Sant Rafael, Barcelona, Barcelona, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸HU Can Misses, Ibiza, Spain, ¹⁹Hospital Vall Hebrón Barcelona, Barcelona, Spain, ²⁰Hospital Vall Hebron, Barcelona, Barcelona, Spain, ²¹Hospital Universitari Vall d'Hebron, Barcelona, Spain, ²²Vall d’Hebron Hospital, Barcelona, Catalonia, Spain
Background/Purpose: Abatacept (CTLA4-Ig) is an approved biological therapy for the treatment of rheumatoid arthritis (RA). Similar to other biological agents, most patients (50-60%) respond significantly…
Abstract Number: 1014 • 2017 ACR/ARHP Annual Meeting
The Rheumatic Disease Data Refinery: A Case Study in Integrative Genomics Reveals Complex IFN Signatures in Therapeutic Studies in SLE
Jaclyn N Taroni and Casey S. Greene, Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA
Background/Purpose: Over the past 15 years, more than 10,000 whole tissue biopsies from patients with rheumatic diseases have been deposited into publicly available gene expression…
Abstract Number: 2429 • 2017 ACR/ARHP Annual Meeting
Towards Precision Medicine in Rheumatoid Arthritis (RA): Trans-Ethnic Analysis and Prioritization of SNPs in the AFF3 Locus
Vincent A. Laufer¹, Maria I. Danila², Richard J. Reynolds³, Leah C. Kottyan⁴, Kenneth Kaufman⁵, John B. Harley⁶, Carl D Langefeld⁷, Donna Arnett⁸ and S. Louis Bridges Jr.⁹, ¹Division of Clinical Rheumatology and Immunology, University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Birmingham, AL, ³Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁶Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Wake Forest University, Winston Salem, NC, ⁸University of Kentucky College of Public Health, Lexington, KY, ⁹Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL
Background/Purpose: Genetic variants in AFF3 have been associated with RA, including in our GWAS and ImmunoChip analyses of African-Americans (610 RA; 1543 controls). Likewise, an…
Abstract Number: 2636 • 2017 ACR/ARHP Annual Meeting
EZH2 Modulates the DNA Methylome and Controls T Cell Adhesion through Junctional Adhesion Molecule-a in Lupus Patients
Pei-Suen Tsou¹, Patrick Coit¹, Nathan Kilian² and Amr H Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Rheumatology, University of Michigan, Ann Arbor, MI
Background/Purpose: EZH2 is an epigenetic regulator that trimethylates lysine 27 of histone 3 (H3K27me3) and modulates DNA methylation patterns. We have previously suggested that EZH2…
Abstract Number: 2931 • 2017 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Guoshuai Cai², Diana Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁸, John Clarke⁹, Francesco Boin¹⁰, Paul Wolters¹¹, Lorinda Chung¹² and Michael L. Whitfield¹, 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, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Stanford University School of Medicine, Stanford, CA, ⁷Department of Dermatology, Stanford University School of Medicine, Palo Alto, CA, ⁸Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ⁹Medicine/Gastroenterology, Stanford University, Stanford, CA, ¹⁰Rheumatology, University California, San Francisco, San Francisco, CA, ¹¹Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹²Rheumatology, Stanford University Medical Center, Palo Alto, CA
Background/Purpose: While skin fibrosis is a hallmark of systemic sclerosis (SSc), internal organ involvement is the primary cause of morbidity and mortality, often related to…
Abstract Number: 70 • 2016 ACR/ARHP Annual Meeting
Identifying Distal Interactions Between RUNX1 and JIA Associated Single Nucleotide Polymorphisms By Chromosome Conformation Capture
Christopher Taylor¹, Anne Hinks², Amanda McGovern¹, Helen Ray-Jones³, Kate Duffus¹, Annie Yarwood⁴, Gisela Orozco⁵, Paul Martin⁶, Wendy Thomson⁷ and Stephen Eyre⁸, ¹Centre for Musculoskeletal Research, University of Manchester, Manchester, United Kingdom, ²ARC Epidemiology Unit, University of Manchester, Manchester, United Kingdom, ³Centre for Musculoskeletal Research, University of MAnchester, Manchester, United Kingdom, ⁴Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, Institute of Inflammation and repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ⁵Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁶Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ⁷Arthritis Research UK Centre for Genetics and Genomics,The University of Manchester, Manchester, United Kingdom, ⁸The University of Manchester, Manchester, United Kingdom
Background/Purpose: 17 genetic loci have now been identified to confer susceptibility to JIA; several of these loci harbour genes involved in the IL2 pathway suggesting…
Abstract Number: 76 • 2016 ACR/ARHP Annual Meeting
Chromatin Interactions Reveal Novel Gene Targets for Drug Repositioning in Rheumatic Diseases
Paul Martin¹, Amanda McGovern¹, Kate Duffus¹, Annie Yarwood¹, Anne Barton^2,3, Jane Worthington^1,2, Stephen Eyre¹ and Gisela Orozco³, ¹Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ²NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom, ³Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom
Background/Purpose: The treatment of rheumatic diseases can be both expensive and ineffective with up to 1/3 of patient’s failing to respond to current treatments. There…
Abstract Number: 2843 • 2014 ACR/ARHP Annual Meeting
SLE Patients Carrying a Disease-Associated PTPN22 R620W Variant Show Reduced Interferon-Inducing Capacity
Yaya Wang¹, David Ewart², Ami Yamamoto², Emily C. Baechler¹, Parastoo Fazeli³ and Erik J. Peterson², ¹Medicine, University of Minnesota, Minneapolis, MN, ²University of Minnesota, Minneapolis, MN, ³Division of Rheumatic and Autoimmune Diseases, University of Minnesota, Minneapolis, MN
Background/Purpose Type 1 interferons (IFN) are implicated in the pathogenesis of systemic lupus erythematosus (SLE). Increased expression of IFN-regulated genes, termed the IFN-signature, correlates with…
Abstract Number: 2454 • 2014 ACR/ARHP Annual Meeting
Genetic Influences on Rheumatoid Arthritis in African-Americans
Vincent A. Laufer^1,2, Richard J. Reynolds³, Maria I. Danila⁴, Gordon Wu⁵, Amit Patki⁵, Devin Absher⁶, Carl D. Langefeld⁷, R. Curtis Hendrickson⁸, Elliot J. Lefkowitz⁹, Ted R. Mikuls¹⁰, Peter K. Gregersen¹¹, Elizabeth E. Brown⁸, Robert P. Kimberly⁸, John B. Harley¹², Donna K. Arnett⁸, Hemant K. Tiwari⁵ and S. Louis Bridges Jr.^8,13, ¹Division of Clinical Rheumatology and Immunology, University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham Medical Scientist Training Program, Birmingham, AL, ³Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁴Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁵Biostatistics, University of Alabama at Birmingham, Birmingham, AL, ⁶Hudson Alpha Institute for Biotechnology, Huntsville, AL, ⁷Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁸University of Alabama at Birmingham, Birmingham, AL, ⁹Microbiology, University of Alabama at Birmingham, Birmingham, AL, ¹⁰Veteran Affairs Nebraska Western Iowa Health Care System and University of Nebraska Medical Center, Omaha, NE, ¹¹Genomics and Human Genetics, Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY, ¹²Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹³Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Rheumatoid arthritis (RA) affects 0.5-1% of the population worldwide. The genetics of RA has been analyzed in large European and Asian studies, but much…
Abstract Number: 869 • 2014 ACR/ARHP Annual Meeting
UBE2L3 genotype Influences Plasma Cell Proliferation in Systemic Lupus Erythematosus By Regulation of NF-κB By the Linear Ubiquitination Assembly Complex
Myles J. Lewis¹, Simon Vyse¹, Adrian M. Shields², Sebastian Boeltz², Patrick Gordon³, Timothy D. Spector⁴, Paul J. Lehner⁵, Henning Walczak⁶ and Timothy J. Vyse², ¹Experimental Medicine & Rheumatology, Queen Mary University of London, London, United Kingdom, ²Medical & Molecular Genetics, King's College London, London, United Kingdom, ³Department of Rheumatology, King's College London, London, United Kingdom, ⁴Department of Twin Research, King's College London, London, United Kingdom, ⁵Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom, ⁶Centre for Cell Death, Cancer and Inflammation, University College London, London, United Kingdom
Background/Purpose: Genome-wide association studies have identified a strong association between a single risk haplotype of the UBE2L3gene and Systemic Lupus Erythematosus (SLE), as well as…
Abstract Number: 2494 • 2013 ACR/ARHP Annual Meeting
Ankylosing Spondylitis Associated Endoplasmic Reticulum Aminopaptidase 1 Variants In Antigen Presentaing Cells Affect HLA-B27 Free Heavy Chain Expression and Binding To NK-Cell Receptors
Nigil Haroon^1,2,3 and Zhenbo Zhang³, ¹Rheumatology, University Health Network, Toronto, ON, Canada, ²Medicine, Rheumatology, University of Toronto, Toronto, ON, Canada, ³Toronto Western Research Institute, Toronto, ON, Canada
Background/Purpose: ERAP1 and HLA-B27 are strongly associated with ankylosing spondylitis (AS). Using well-controlled tissue culture systems, we studied the effects of AS-associated ERAP1 variants on…
Abstract Number: 538 • 2013 ACR/ARHP Annual Meeting
Ankylosing Spondylitis Associated Endoplasmic Reticulum Aminopeptidase 1 Variants Alter The Unfolded Protein Response
Nigil Haroon^1,2,3 and Zhenbo Zhang³, ¹Rheumatology, University Health Network, Toronto, ON, Canada, ²Medicine, Rheumatology, University of Toronto, Toronto, ON, Canada, ³Toronto Western Research Institute, Toronto, ON, Canada
Background/Purpose: Endoplasmic reticulum aminopeptidase 1 (ERAP1) has recently been identified to be strongly associated with HLA-B27 positive AS. We have shown that ERAP1 variants cause…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].