Abstracts tagged "genetics"

Abstract Number: 0790 • ACR Convergence 2020
Vitamin D Polygenetic Risk Score and the Association with RA Autoantibodies Among First-Degree Relatives of RA Subjects
Elizabeth Bemis¹, Kendra Young², Jennifer Seifert³, Marie Feser⁴, Kevin D. Deane⁵, M Kristen Demoruelle⁶, James O'Dell⁷, Michael Weisman⁸, Peter Gregersen⁹, Richard Keating¹⁰, William Robinson¹¹, Jane Buckner¹², Carl Langefeld¹³, Joel Guthridge¹⁴, Judith James¹⁵, V Michael Holers⁴ and Jill Norris¹⁶, ¹Colorado School of Public Health Anschutz Medical Campus, Aurora, CO, ²University of Colorado Denver, Aurora, CO, ³UC Denver, Littleton, CO, ⁴Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁵2 Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁶University of Colorado, Denver, CO, ⁷University of Nebraska Medical Center, Omaha, NE, ⁸Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, ⁹5. Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY, ¹⁰Scripps Clinic/Scripps Green Hospital, La Jolla, CA, ¹¹Stanford University, Palo Alto, CA, ¹²Center for Translational Immunology, Benaroya Research Institute at Virginia Mason, Seattle, WA, ¹³Wake Forest School of Medicine, Winston Salem, NC, ¹⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Oklahoma Medical Research Foundation, Oklahoma City, ¹⁶Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Colorado
Background/Purpose: Rheumatoid arthritis (RA) is a complex autoimmune disease whose etiology remains largely unknown. Vitamin D has been widely studied due to its association with…
Abstract Number: 1862 • ACR Convergence 2020
Genetic Influences on Occurrence of Axial Spondyloarthritis (axSpA) in First-degree Relatives During a Prospective Study Lasting 35 Years
Muhammad Khan¹, Sjef van der Linden², Peter Villiger³, Zhixiu Li⁴, Mohammad Khan⁵, Heinz Baumberger⁶, Hermine Zandwijk⁷ and Matthew Brown⁸, ¹Case Western Reserve University, Cleveland OH, Westlake, OH, ²Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ³Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁴Queensland University of Technology (QUT), Translational Genomics Group, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Qld, Australia, Brisbane, Queensland, Australia, ⁵Kent State University, Kent, OH, ⁶Retired, Flims, Tajikistan, ⁷Retired, Mortroux, Belgium, ⁸Guy's and St Thomas, NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, King's College London, London, United Kingdom, London, United Kingdom
Background/Purpose: To investigate the recurrence rate (RR) of ankylosing spondylitis (AS) over a lifespan, probands with clinically diagnosed AS and their first-degree relatives (FDRs) were…
Abstract Number: 0039 • ACR Convergence 2020
Identification of a Regulatory Pathway Governing Expression of TRAF1 via a JIA-associated Non-coding Variant
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Over the past decade, genome-wide association studies (GWAS) have identified TRAF1/C5 locus as a risk locus for rheumatoid diseases including RA and JIA(Plenge, Seielstad…
Abstract Number: 0982 • ACR Convergence 2020
Genetics of Avascular Necrosis in Children and Adults with Systemic Lupus Erythematosus
Declan Webber¹, JingJing Cao², Daniela Dominguez³, Dafna Gladman⁴, Andrea Knight⁵, Deborah Levy¹, Lawrence Ng⁶, Andrew Paterson², Zahi Touma⁷, Murray Urowitz⁸, Joan Wither⁹, Earl D. Silverman¹⁰ and Linda Hiraki¹¹, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁴Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁷University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network; Krembil Research Institute, Toronto, ON, Canada, ⁸University Health Network, University of Toronto, Toronto, ON, Canada, ⁹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹⁰Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ¹¹Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Genetics have been shown to contribute to risk of avascular necrosis (AVN), a debilitating complication of systemic lupus erythematosus (SLE). Our aim was to…
Abstract Number: 1875 • ACR Convergence 2020
Heterogeneity Amongst Men and Women with Ankylosing Spondylitis and Non-Radiographic Axial Spondyloarthritis
Zhixiu Li¹, Muhammad Khan², Mohammad Khan³, Peter Villiger⁴, Heinz Baumberger⁵, Hermine Zandwijk⁶, Sjef van der Linden⁷ and Matthew Brown⁸, ¹Queensland University of Technology (QUT), Translational Genomics Group, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Qld, Australia, Brisbane, Queensland, Australia, ²Case Western Reserve University, Cleveland OH, Westlake, OH, ³Kent State University, Kent, OH, ⁴Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁵Retired, Flims, Tajikistan, ⁶Retired, Mortroux, Belgium, ⁷Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ⁸Guy's and St Thomas, NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, King's College London, London, United Kingdom, London, United Kingdom
Background/Purpose: Axial spondyloarthritis (axSpA) includes both ankylosing spondylitis (AS) and non-radiographic axial disease (nr-axSpA). Our purpose was to investigate genetic heterogeneity of clinically diagnosed axSpA.Methods:…
Abstract Number: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner ¹, Elaine Remmers ², Miranda Marion ³, Marc Sudman ⁴, Colleen Satorius ⁵, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson ⁶, Michael Ombrello¹, Patricia Woo ⁷, Carl Langefeld ⁸, Sampath Prahalad ⁹ and Susan Thompson ¹⁰, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute, Bethesda, ³Wake Forest University, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁷London, United Kingdom, ⁸Winston Salem, ⁹Emory + Children's Pediatric Institute, Atlanta, ¹⁰Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
Abstract Number: 017 • 2020 Pediatric Rheumatology Symposium
MyD88 S209R-Mediated Immune Dysregulation in Mouse Models of Arthritis
Sufia Bakshi¹, Malika Waschmann ², Anders Lindstedt ², Emily Rominger ², Robert Colbert ³ and Keith Sikora ⁴, ¹National Institutes of Health, Bethesda, Maryland, ²National Institutes of Health, Bethesda, ³NIH/NIAMS, Bethesda, Maryland, ⁴National Institutes of Health Clinical Center, Bethesda, Maryland
Background/Purpose: MYD88 is a critical adaptor protein that connects Toll-like and IL-1 receptor signaling to activation of NF-kB. We previously reported a heterozygous de novo mutation in MYD88 (S222R)…
Abstract Number: 019 • 2020 Pediatric Rheumatology Symposium
Characterization of DOCK8 as a Novel Gene Associated with Cytokine Storm Syndrome
Mingce Zhang ¹, Remy Cron ¹, Devin Absher ², Prescott Atkinson ¹, W. Winn Chatham ¹ and Randy Cron¹, ¹University of Alabama at Birmingham, Birmingham, ²HudsonAlpha Institute for Biotechnology, Huntsville
Background/Purpose: Cytokine storm syndromes (CSS), such as macrophage activation syndrome (MAS) and secondary hemophagocytic lymphohistiocytosis (HLH), are life threatening conditions that commonly present with unremitting…
Abstract Number: 031 • 2020 Pediatric Rheumatology Symposium
Exome Sequencing for Early Pediatric Systemic Lupus Erythematosus: Standard of Care in 2020?
Yike Jiang¹, Bo Yuan ¹, Marietta DeGuzman ¹, M. Cecilia Poli ², Justin Branch ¹, Andrea Ramirez ³, Martha Curry ¹, Maria Pereira ⁴, Amanda Brown ¹, W. Blaine Lapin ⁵, Sarah Nicholas ¹, Lisa Forbes ¹, Nicholas Rider ¹, Levi Watkin ¹, Jennifer Rammel ⁶, Ankur Kamdar ⁷, Melissa Mizesko ⁸, Juan Carlos Becerra ⁹, Emilina Lim ¹⁰, Eyal Muscal ¹¹, Anaid Reyes ¹, Zeynep Coban-Akdemir ¹, James Lupski ¹, Ivan Chinn ¹ and Tiphanie Vogel ¹, ¹Baylor College of Medicine, Houston, ²Universidad del Desarrollo, Santiago, Chile, ³Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁴Assistant Professor, Section of Rheumatology, Division of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁵, ⁶Section of Nephrology and Rheumatology, Department of Pediatrics, University of Florida Health Jacksonville, Jacksonville, Florida, ⁷Houston, ⁸Driscoll Children's Hospital, Corpus Christi, ⁹Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru, ¹⁰Children's Hospital Orange County, Orange County, ¹¹Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, houston
Background/Purpose: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with multifactorial etiology. Identification of monogenic causes of pediatric SLE (pSLE) has yielded important insights…
Abstract Number: 158 • 2020 Pediatric Rheumatology Symposium
Genetics of Age at Diagnosis in Childhood-Onset Systemic Lupus Erythematosus
Raffaella Carlomagno¹, Fangming Liao ¹, JingJing Cao ², Dafna Gladman ³, Marisa Klein-Gitelman ⁴, Andrea Knight ⁵, Deborah Levy ¹, Andrew Paterson ², Zahi Touma ³, Murray Urowitz ³, Declan Webber ¹, Joan Wither ³, Earl D. Silverman ⁶ and Linda Hiraki ⁷, ¹Division of Rheumatology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, Canada, ⁴Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, ⁵SickKids Research Institute, Toronto, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Translational Medicine, Research Institute, The Hospital for Sick Children, Toronto, Canada, ⁷Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Canada
Background/Purpose: The genetic contribution to the development of systemic lupus erythematosus (SLE) is estimated to be 66% in twin studies. Genome wide association studies (GWAS)…
Abstract Number: 164 • 2020 Pediatric Rheumatology Symposium
The Juvenile Idiopathic Arthritis-Associated IL2RA and IL6R Haplotypes Contain Enhancers Whose Functions Are Altered by JIA-Associated Genetic Variants
Kaiyu Jiang ¹, Yungki Park ², tao liu ³, Marc Sudman ⁴, Susan Thompson ⁵ and James Jarvis⁶, ¹University at Buffalo, Buffalo, ²University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, ³Roswell Park Cancer Institute, Buffalo, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, ⁶University at Buffalo Jacobs School of Medicine, Buffalo
Background/Purpose: The JIA risk haplotypes, like those of other autoimmune diseases, are highly enriched for H3K4me1/H3K27ac histone marks, epigenetic features typically associated with functional enhancers.…
Abstract Number: 165 • 2020 Pediatric Rheumatology Symposium
A Massively Parallel Reporter Assay Screen of Genetic Variants on JIA Haplotypes Reveals Variants Associated with Altered Function of an Intergenic Enhancer in the HLA Class II Locus
Kaiyu Jiang ¹, tao liu ², Ryan Tewhey ³ and James Jarvis⁴, ¹University at Buffalo, Buffalo, ²Roswell Park Cancer Institute, Buffalo, ³Jackson Laboratories, Bar Harbor, ⁴University at Buffalo Jacobs School of Medicine, Buffalo
Background/Purpose: While genome-wide association studies have provided valuable information about genetic risk for juvenile idiopathic arthritis (JIA), we are still unable to determine the actual…
Abstract Number: 1954 • 2019 ACR/ARP Annual Meeting
Association of Functional (GA)n Microsatellite Polymorphism in the FLI1 Gene with Susceptibility to Human Systemic Sclerosis
Aya Kawasaki¹, Keita Yamashita ², Takashi Matsushita ³, Hiroshi Furukawa ⁴, Yuya Kondo ⁵, Naoko Okiyama ⁶, Shouhei Nagaoka ⁷, Kota Shimada ⁸, Shoji Sugii ⁹, Masao Katayama ¹⁰, Shunsei Hirohata ¹¹, Akira Okamoto ¹², Noriyuki Chiba ¹³, Eiichi Suematsu ¹⁴, Keigo Setoguchi ¹⁵, Kiyoshi Migita ¹⁶, Takayuki Sumida ⁵, Shigeto Tohma ¹⁷, Minoru Hasegawa ¹⁸, Yasuhito Hamaguchi ³, Shinichi Sato ¹⁹, Yasushi Kawaguchi ²⁰, Kazuhiko Takehara ³ and Naoyuki Tsuchiya ¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Doctoral Program in Biomedical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan, ³Department of Dermatology, Kanazawa University, Kanazawa, Japan, ⁴Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan, ⁵Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁷Yokohama Minami Kyousai Hospital, Yokohama, Kanagawa, Japan, ⁸Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, ⁹Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, Japan, ¹⁰National Hospital Organization Nagoya Medical Center, Nagoya, Japan, ¹¹Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Tatsuno, Japan, ¹²National Hospital Organization HImeji Medical Center, Himeji, Hyogo, Japan, ¹³National Hospital Organization Morioka Medical Center, Morioka, Iwate, Japan, ¹⁴National Hospital Organization Kyushu Medical Center, Fukuoka, Japan, ¹⁵Tokyo Metropolitan Cancer and Infectious Dease Center Komagome Hospital, Tokyo, Tokyo, Japan, ¹⁶Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan, ¹⁷National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ¹⁸Department of Dermatology, Fukui University, Fukui, ¹⁹University of Tokyo Graduate School of Medicine, Department of Dermatology, Tokyo, Japan, ²⁰Department of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan
Background/Purpose: Susceptibility genes which can account for the characteristic features of systemic sclerosis (SSc) such as fibrosis, vasculopathy and autoimmunity remain to be determined. A…
Abstract Number: 1959 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Systemic Lupus Erythematosus (SLE) Risk Alleles: Association with Increased Risk for Type 1 Diabetes (T1D) Complications Through a PTPN22 Polymorphism
Vivian Kawai¹, Mingjian Shi ¹, Qiping Feng ², Cecilia Chung ¹, Ge Liu ², Nancy Cox ², Dan Roden ², C. Michael Stein ¹ and Jonathan Mosley ², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University Medical Center, Nashville
Background/Purpose: Patients with SLE have increased risk of cardiovascular events and a higher prevalence of metabolic conditions compared to the general population. Inflammation is a…
Abstract Number: 1960 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Genetic Predisposition to Rheumatoid Arthritis Increases the Risk for Autoimmune Disease
Vivian Kawai¹, Mingjian Shi ¹, Qiping Feng ², Cecilia Chung ¹, Ge Liu ², Nancy Cox ², Dan Roden ², C. Michael Stein ¹ and Jonathan Mosley ², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University Medical Center, Nashville
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is associated with increased risk of cardiovascular disease, cardiometabolic disorders, and autoimmune disease. Thus, we…

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