Abstracts tagged "genetics"

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.…
Abstract Number: 1120 • ACR Convergence 2022
Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues
Marcin Radziszewski¹, Mandi Wiley¹, Bhuwan Khatri¹, 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, R. Hal Scofield³, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Umesh Deshmukh¹, 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
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
Abstract Number: 1538 • ACR Convergence 2022
Decreased Prevalence of Autoimmune Connective Tissue Diseases in Type 1 and Type 2 Diabetes
Aya abugharbyeh, Sadik Khuder and bashar Kahaleh, University of Toledo, Toledo, OH
Background/Purpose: Evidence suggest that autoimmune diseases tend to coexist at a higher rate than expected, reflecting a common pathogenetic pathway. However, data sets have shown…
Abstract Number: 2177 • ACR Convergence 2022
Familial Clustering of Systemic Sclerosis, Autoimmunity, and Cancer History
Mariana Bombini¹, Nailú Sinicato¹, Jacqueline Paredes², Theresa Wampler Muskardin², Tiago Nardi Amaral¹, Ana Paula Del Rio¹, Joao Marques Neto³, Timothy Niewold² and Simone Appenzeller⁴, ¹State University of Campinas, Campinas, São Paulo, Brazil, ²Hospital for Special Surgery, New York, NY, ³State University of Campinas, São Paulo, Brazil, ⁴Unicamp, Campinas, São Paulo, Brazil
Background/Purpose: Systemic sclerosis (SSc) is a complex disease characterized by chronic inflammation, fibrosis, and vasculopathy. Genetic factors contribute to pathogenesis, but because it is a…

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