Abstracts tagged "genetics"

Abstract Number: 1155 • ACR Convergence 2022
Epigenome-Wide Integrative Association Study on Spondyloarthritis and Psoriatic Arthritis
Elena Carnero-Montoro¹, Ivan Arias-de la Rosa², Clementina Lopez-Medina³, lourdes Ladehesa-Pineda⁴, Rafaela Ortega-Castro², Daniel Toro-Domínguez¹, Manuel Martinez-Bueno¹, Raúl López-Domínguez⁵, Olivia Castellini-Pérez¹, Guillermo Barturen¹, Nuria Barbarroja², Eduardo Collantes² and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, Spain, ³Reina Sofia University Hospital, Rheumatology Department, Jaén, Spain, ⁴Reina Sofia University Hospital/Rheumatology Department/Maimonides Institute for Biomedical Research (IMIBIC), Cordoba, Spain, ⁵University of Granada, Granada, Spain
Background/Purpose: An important role of DNA methylation changes in Spondylitis Ankylosing has been recently demonstrated by epigenome-wide studies. However, there is a lack of genome-wide…
Abstract Number: 1936 • ACR Convergence 2022
A De Novo Dominant-negative PSMB8 mutation is Linked to a More Severe CANDLE-like Phenotype
Sara Alehashemi¹, Adriana Almeida de Jesus², Jonas Johannes Papendorf³, Farzana Bhuyan⁴, Kat Uss⁵, Anvitha Metpally⁶, Bin Lin⁷, Sophia Park⁸, Thais C.L. Moura⁹, Renata R Dias⁹, Mayra B. Dorna⁹, Katia Kozu⁹, Adriana Sallum⁹, Lucia M. A. Campos⁹, Gijs Santen¹⁰, Jesper Kers¹⁰, Onno Teng¹¹, Karin Palmblad¹², Tom Huizinga¹⁰, Frédéric Ebstein¹³, Elke Krüger¹³ and Raphaela Goldbach-Mansky¹⁴, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Silver Spring, MD, ³Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany, ⁴National Institutes of Health, Bethesda, MD, ⁵National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁶NIAID, NIH, Bethesda, MD, ⁷NIH, Bethesda, MD, ⁸NIAID, Bethesda, MD, ⁹Children's Hospital of the University of São Paulo, São Paulo, Brazil, ¹⁰Leiden University Medical Center, Leiden, Netherlands, ¹¹Leiden University Medical Center, Leiderdorp, Netherlands, ¹²Karolinska University Hospital, Stockholm, Sweden, ¹³Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ¹⁴NIH/NIAID, Potomac, MD
Background/Purpose: Homozygote (HM)/compound heterozygote (CH) and digenic (DG) mutations in proteasome subunits cause the autoinflammatory syndrome CANDLE, or proteasome-associated autoinflammatory syndrome (PRAAS). Inflammation is mediated…
Abstract Number: 0670 • ACR Convergence 2022
A Short Allelic Epitope Coded by HLA-DRB1*03:01 Activates a Systemic Lupus Erythematosus Cell Aberration Cascade
Bruna Miglioranza Scavuzzi¹, Bhavneet Kaur¹, Vincent Van Drongelen¹, Raquel Mesquita-Ferrari², Amr Sawalha³, Frederick Miller⁴ and Joseph Holoshitz¹, ¹University of Michigan, Ann Arbor, MI, ²Universidade Nove de Julho (UNINOVE), São Paulo, Brazil, ³University of Pittsburgh, Pittsburgh, PA, ⁴Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease resulting from an interaction of genetic, epigenetic, hormonal, environmental and immunoregulatory influences. It has been well…
Abstract Number: 1160 • ACR Convergence 2022
Mapping Spondyloarthritis Susceptibility Loci in B10.RIII Mice
Jyotsna Soundararajan¹, Anu Shivalikanjli², Thomas Keane² and Joerg Ermann³, ¹Brigham and Women's Hospital, Boston, MA, ²European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, United Kingdom, ³Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Overexpression of IL-23 using IL-23 minicircle DNA in B10.RIII mice results in the development of a spondyloarthritis-like disease. B10.RIII (B10.RIII-H2r H2-T18b/(71NS)SnJ) is a major…
Abstract Number: 1940 • ACR Convergence 2022
Genetic Variants and Cytokine Signatures in Patients with Syndrome of Undifferentiated Recurrent Fevers
Marci Macaraeg, Michael Matt, Grant Schulert, Elizabeth Baker and Elizabeth Handorf, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained, recurrent fevers are a common presentation to pediatric rheumatology and a cause of significant burden to affected families due to days of daycare…
Abstract Number: 0867 • ACR Convergence 2022
Regulatory Haplotype of CXCR4 Is Associated with sJIA and Corelates with Enhanced Neutrophil and CD14+ Monocyte Migration
Hiroto Nakano¹, Emily Shuldiner², Anne Hinks³, Marc Sudman⁴, Elaine Remmers⁵, Colleen Satorius⁶, Elizabeth Schmitz¹, Victoria Arthur⁷, Patricia Woo⁸, Alexei Grom⁹, Dirk Foell¹⁰, John Bohnsack¹¹, Marco Gattorno¹², Seza Ozen¹³, Sampath Prahalad¹⁴, Rae Yeung¹⁵, Elizabeth Mellins², Sheila Oliveira¹⁶, Jordi Antón¹⁷, Claudio Len¹⁸, Carol Lake¹⁹, Ly-Lan Bergeron²⁰, Michelle Millwood²¹, Estefania de los santos²¹, Mariana Correia Marques²², Juvenile Arthritis Consortium for the Immunochip²³, The Genomic Ascertainment Cohort Investigators²⁴, INCHARGE Consortium²⁵, Carl Langefeld²⁶, Susan Thompson²⁷, Wendy Thomson²⁸ and Michael Ombrello¹, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Stanford University, Stanford, CA, ³The University of Manchester, Manchester, United Kingdom, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵National Human Genome Research Institute, Bethesda, MD, ⁶NHGRI, NIH, Bethesda, MD, ⁷Boston Children's Hospital, Boston, MA, ⁸University College London, London, United Kingdom, ⁹Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ¹⁰University Hospital Münster, Münster, Germany, ¹¹University of Utah, Salt Lake City, UT, ¹²Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ¹³Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁴Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁵The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ¹⁶Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹⁸Universidade Federal de São Paulo, São Paulo, Brazil, ¹⁹NIH, Gaithersburg, MD, ²⁰NIH/NIAMS, Vienna, VA, ²¹NIAMS, NIH, Bethesda, MD, ²²National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²³Juvenile Arthritis Consortium for the Immunochip, Bethesda, MD, ²⁴The Genomic Ascertainment Cohort Investigators, Bethesda, MD, ²⁵International Childhood Arthritis Genetics Consortium, Bethesda, MD, ²⁶Wake Forest School of Medicine, Winston Salem, NC, ²⁷Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Blue Ash, OH, ²⁸Manchester Academic Health Science Centre, Manchester, United Kingdom
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare inflammatory disease that causes spiking fever, skin rash, chronic arthritis, and inflammation of the heart and…
Abstract Number: 1379 • ACR Convergence 2022
Association of HLA Alleles with Specific Auto-antibodies in an Ancestrally Diverse Population of Childhood Systemic Lupus Erythematosus (SLE)
Nicholas Gold¹, Fangming Liao¹, JingJing Cao¹, Daniela Dominguez¹, Andrea Knight², Deborah Levy³ and Linda Hiraki⁴, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ³Division of Rheumatology, The Hospital for Sick Children; Child Health Evaluative Services, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁴The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease capable of affecting multiple organ systems. Genetic variants in the Human Leukocyte Antigen (HLA) are associated…
Abstract Number: 2019 • ACR Convergence 2022
Fine Mapping of the Sjögren’s Disease and Systemic Lupus Erythematosus DDX6-CXCR5 Risk Interval Reveals Common SNPs with Functional Significance in Immune and Salivary Gland Cells
Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Michelle Joachims¹, Anna Stolarczyk¹, Anna Nagel¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, Hal Scofield¹, Xavier Mariette¹¹, Fai Ng¹², Gunnel Nordmark¹⁰, Betty Tsao¹³ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹³Medical University of South Carolina, Charleston, SC
Background/Purpose: Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) share several characteristics and have similar genome-wide significant associations in the DDX6-CXCR5 locus. Fine mapping of…
Abstract Number: 0912 • ACR Convergence 2022
Associations Between Fatty Acid Amide Hydrolase Variants and Response to Cannabis Use for Pain Management in Rheumatoid Arthritis
Kristin Wipfler¹, Joanna Zeiger², Teresa Simon³, Stuart Kassan⁴ and Kaleb Michaud⁵, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²Canna Research Foundation, Boulder, CO, ³Physicians Research Center Consultant to ForWard, Toms River, NJ, ⁴Colorado Arthritis Associates, Lakewood, CO, ⁵University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Fatty acid amide hydrolase (FAAH) is a serine hydrolase that breaks down the endocannabinoid/cannabinoid receptor agonist anandamide. Variants in the FAAH gene have been…
Abstract Number: 1399 • ACR Convergence 2022
Inflammatory Arthritis Genetic Risk Factors to Predict Treatment Patterns in Rheumatoid Arthritis
Gregory McDermott¹, Jing Cui¹, Rachel Knevel², Kumar Dahal¹, Dana Weisenfeld¹, Priyam Das³, Elizabeth Karlson¹, Su-Chun Cheng⁴, Soumya Raychaudhuri¹, Tianxi Cai⁴ and Katherine Liao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Leiden University Medical Center, Leiden, Netherlands, ³Harvard Medical School, Boston, MA, ⁴Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: In a prior study, we described an alternative method for subphenotyping RA patients by the sequence of biologic DMARDs (bDMARDs) they receive over time.…
Abstract Number: 2020 • ACR Convergence 2022
Autophagy-related Risk Loci in Systemic Lupus Erythematous and Sjögren’s Disease
Anna Nagel¹, Bhuwan Khatri¹, Marcin Radziszewski¹, Mandi Wiley¹, Anna Stolarczyk¹, Michelle Joachims¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, Hal Scofield¹, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Qing Sun¹⁴, Kwangwoo Kim¹⁵, Sang-Cheol Bae¹⁶, Betty Tsao¹⁴, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹⁴Medical University of South Carolina, Charleston, SC, ¹⁵Kyung Hee University, Seoul, Republic of Korea, ¹⁶Hanyang University Medical Center, Seoul, Republic of Korea
Background/Purpose: Dysregulated autophagy is implicated in systemic lupus erythematous (SLE) and Sjögren's disease (SjD), including dysregulated expression of Autophagy-related gene 5 (ATG5) and Autophagy Related…
Abstract Number: 1038 • ACR Convergence 2022
Genetic and Molecular Distinctions Between Axial Psoriatic Arthritis and Ankylosing Spondylitis
Arthur Kavanaugh¹, Xenofon Baraliakos², Sheng Gao³, Warner Chen³, Kristen Sweet³, Soumya Chakravarty⁴, Qingxuan Song³, May Shawi⁵, Frank Behrens⁶ and Proton Rahman⁷, ¹University of California San Diego, San Diego, CA, USA, San Diego, CA, ²Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ³Janssen Research and Development, LLC, Spring House, PA, ⁴Janssen Scientific Affairs, LLC; Drexel University College of Medicine, Villanova, PA, ⁵Immunology Global Medical Affairs, Janssen Pharmaceutical Companies of Johnson & Johnson, Horsham, PA, ⁶Rheumatology University Hospital & Fraunhofer Institute Translational Medicine and Pharmacology, Goethe-University Frankfurt, Frankfurt Am Main, Germany, ⁷Memorial University, St. John's, NL, Canada
Background/Purpose: Despite overlapping symptoms, axial psoriatic arthritis (axPsA) and ankylosing spondylitis (AS) may be distinct disorders with differing clinical manifestations, genetic associations, and radiographic findings.1…
Abstract Number: 1454 • ACR Convergence 2022
A High Genetic Risk of SLE Is Associated with an Increased Risk of Myocardial Infarction; A Combined Observational and Mendelian Randomization Study
Sarah Reid¹, Johanna K Sandling¹, Pascal Pucholt¹, Ahmed Sayadi¹, Christopher Sjöwall², Karoline Lerang³, Andreas Jönsen⁴, Anders A Bengtsson⁴, Øyvind Molberg³, Anna Rudin⁵, Solbritt Rantapää-Dahlqvist⁶, Lars Ronnblom⁷ and Dag Leonard¹, ¹Rheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection, Linköping University, Linköping, Sweden, ³Department of Rheumatology, Oslo University Hospital, Oslo, Norway, Oslo, Norway, ⁴Department of Clinical Sciences, Lund, Section for Rheumatology, Lund University, Lund and Skåne University Hospital, Lund, Sweden, ⁵Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy of University of Gothenburg, Gothenburg, Sweden, ⁶Department of Public Health and Clinical Medicine, Rheumatology, Umeå University, Umeå, Sweden, ⁷Uppsala University, Uppsala, Sweden
Background/Purpose: The reasons for the high cardiovascular morbidity in patients with SLE are not fully understood. Here, we combine a mendelian randomization (MR) approach and…
Abstract Number: 2060 • ACR Convergence 2022
Increased Risk of Adverse Renal Outcomes in Patients of African Ancestry with Systemic Lupus Erythematosus (SLE) – Role of APOL1
Gul Karakoc, Ge Liu, Jorge Gamboa, Cecilia Chung, Jonathan Mosley, Michael Stein and Vivian Kawai, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: SLE disproportionately affects individuals of African (AA) compared to European ancestry (EA). In addition to a higher incidence, the disease is more severe in…
Abstract Number: 0137 • ACR Convergence 2022
Polyarticular Arthritis and Osteolysis Caused by Mutations in the ASAH1 Gene: Farber Disease Clinical Presentations in the First-ever Natural History Study
Alexander Solyom¹, Kathleen Crosby², Nils Confer² and Jaime Lopez Valdez³, ¹Aceragen, Basel, Switzerland, ²Aceragen, Durham, NC, ³Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico
Background/Purpose: Farber disease is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis or seronegative rheumatoid arthritis which leads to a delay in diagnosis for many patients.…

« Previous Page
1
…
8
9
10
11
12
…
26
Next Page »

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].