Abstracts tagged "genetics"

Abstract Number: 1669 • ACR Convergence 2020
Genetics of Age at Diagnosis in Systemic Lupus Erythematosus
Raffaella Carlomagno¹, Fangming Liao², JingJing Cao², Dafna Gladman³, Marisa Klein-Gitelman⁴, Andrea Knight⁵, Deborah Levy¹, Karen Onel⁶, Andrew Paterson², Christine Peschken⁷, Janet Pope⁸, Zahi Touma⁹, Murray Urowitz¹⁰, Declan Webber¹, Joan Wither¹¹, Earl D. Silverman¹² and Linda Hiraki¹³, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁴Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, ⁷Departments of Medicine and Community Health Sciences, University of Manitoba, Winnipeg, MB, Canada, ⁸Department of Medicine, University of Western Ontario, St. Joseph's Health Centre, London, ON, Canada, ⁹University of Toronto, Toronto, ON, Canada, ¹⁰University Health Network, University of Toronto, Toronto, ON, Canada, ¹¹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹²Division 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, ¹³Division 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: Genome wide association studies (GWAS) have identified >90 SNPs associated with systemic lupus erythematosus (SLE) risk. However, there may be additional loci impacting the…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 1671 • ACR Convergence 2020
Identifying Rare Genetic Variants in Childhood-onset Monogenic Systemic Lupus Erythematosus
Melissa Misztal¹, Fangming Liao², Sergey Naumenko³, Andrea Knight⁴, Daniela Dominguez⁵, JingJing Cao², Declan Webber⁶, Bhooma Thiruvahindrapuram⁷, Deborah Levy⁶, Andrew Paterson², Earl D. Silverman⁸ and Linda Hiraki⁹, ¹Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Oakville, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³The Centre for Computational Medicine, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁷The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ⁸Division 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, ⁹Division 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: Among children diagnosed with systemic lupus erythematosus (SLE), there exists monogenic forms of SLE, where rare variants in a single gene lead to disease.…
Abstract Number: 0494 • ACR Convergence 2020
Genetic-epigenetic Interaction and the Relationship Between DNA Methylation Patterns and Disease Activity in a Longitudinal Cohort of Lupus Patients
Patrick Coit¹, Lourdes Ortiz-Fernandez², Emily Lewis³, W. Joseph McCune³, Kathleen Maksimowicz-McKinnon⁴ and Amr Sawalha², ¹University of Pittsburgh and University of Michigan, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Michigan, Ann Arbor, MI, ⁴Henry Ford Hospital, Detroit
Background/Purpose: Genetic factors and epigenetic dysregulation are implicated in the pathogenesis of lupus. We performed a longitudinal analysis of DNA methylation in lupus patients for…
Abstract Number: 1677 • ACR Convergence 2020
Schizophrenia Genetics and Neuropsychiatric Features in Childhood-Onset Systemic Lupus Erythematosus
Ana C. Ulloa Baez¹, Fangming Liao², Raffaella Carlomagno³, Talia Diaz³, Daniela Dominguez⁴, Deborah Levy³, Lawrence Ng⁵, Earl D. Silverman⁶, Andrea Knight⁷ and Linda Hiraki⁸, ¹Genetics & Genome Biology, Research Institute, 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, ON, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁵Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁶Division 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, ⁷Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁸Division 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: Prior studies indicate that schizophrenia and systemic lupus erythematosus (SLE) share genetic risk loci. Despite overlapping phenotypic features such as psychosis, little is known…
Abstract Number: 0658 • ACR Convergence 2020
Identification of Two Novel Dysfunctional Variants in a Physiologically Important Urate Transporter ABCG2 in Paediatric-onset Familial Hyperuricemia and Gout Patients in Three Generations
Blanka Stiburkova¹, Yu Toyoda², Katerina Pavelcova¹, Jana Bohata¹, Pavel Ješina³, Yu Kubota², Tappei Takada² and Hiroshi Suzuki², ¹Institute of Rheumatology, Prague, Czech Republic, ²Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan, Tokyo, Japan, ³Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Background/Purpose: ABCG2 is a high-capacity urate transporter gene. Common dysfunctional variants of ABCG2 that result in decreased urate excretion in humans are major causes of…
Abstract Number: 1681 • ACR Convergence 2020
Hemophagocytic Lymphohistiocytosis (HLH) Gene Variants in Childhood-onset SLE (cSLE) with Macrophage Activation Syndrome (MAS)
Piya Lahiry¹, Sergey Naumenko², Fangming Liao³, Daniela Dominguez⁴, Andrea Knight⁵, Deborah Levy⁶, Melissa Misztal⁷, Lawrence Ng⁸, Earl D. Silverman⁹ and Linda Hiraki¹⁰, ¹Hospital for Sick Children, Toronto, ON, Canada, ²The Centre for Computational Medicine, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, ³Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁷Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Oakville, ON, Canada, ⁸Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁹Division 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, ¹⁰Division 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: Familial Hemophagocytic lymphohistiocytosis (fHLH) is an autosomal recessive, hyper-inflammatory, life-threatening disease. Macrophage activation syndrome (MAS) is also known as secondary HLH due to the…
Abstract Number: 0663 • ACR Convergence 2020
Analysis of Common Gout Comorbidities in the UK Biobank Cohort Reveals Sex-Specific Effects and Genetic Differentiation
Nicholas Sumpter¹, Murray Cadzow², Alexander So³, Richard Reynolds¹ and Tony Merriman², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Otago, Dunedin, New Zealand, ³University of Lausanne, Lausanne, Switzerland
Background/Purpose: This study aimed to estimate the extent to which gout associated genetic variants are associated with the presence/absence of common comorbidities in gout patients…
Abstract Number: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
Abstract Number: 0034 • ACR Convergence 2020
Gene Expression Signatures in C-Reactive Protein High and Low Rheumatoid Arthritis
Adam Cornish¹, Kristin Wipfler¹ and Kaleb Michaud², ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Transcriptome profiling has expanded our ability to identify biomarkers and therapeutic targets and better understand disease progression in a wide variety of conditions. Serum…
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:…

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