Abstracts tagged "genetics"

Abstract Number: 0426 • ACR Convergence 2020
T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)
Emily Rominger¹, Sufia Bakshi², Emily Rose³, Marcela Ferrada³, Peter C. Grayson⁴, Robert Colbert⁵ and Keith Sikora⁶, ¹Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ⁵Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…
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: 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: 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: 1933 • 2019 ACR/ARP Annual Meeting
Tumorigenesis Related Gene Identification in Dermatomyositis Using Meta-Analysis
Jihad Aljabban¹, Saad Syed ², Sharjeel Syed ³, Kalyn Hoffman ⁴, Laith Hasan ⁵, Nikhil Adapa ¹, Zahir Allarakhia ⁶, Dexter Hadley ⁷, Mohamad Aljabban ⁸ and Wael Jarjour ⁹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, ³Stanford School of Medicine, Stanford, CA, ⁴The Ohio State University College of Medicine, Columbus, OH, ⁵Tulane School of Medicine, New Orleans, ⁶Ohio State University College of Medicine, Columbus, OH, ⁷Institute for Computational Health Sciences, San Francisco, ⁸Genesys Health Systems, Grand Blanc, MI, ⁹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease-causing inflammatory changes in the skin and skeletal muscles. DM is associated with carcinomas of the ovary,…
Abstract Number: 1934 • 2019 ACR/ARP Annual Meeting
Tripartite Motif (TRIM) Gene Family Expression in Dermatomyositis
Jihad Aljabban¹, Sharjeel Syed ², Saad Syed ³, Zarife Sahenk ⁴, Noah Weisleder ⁵, Kevin McElhanon ⁵, Kalyn Hoffman ⁶, Nikhil Adapa ¹, Zahir Allarakhia ⁷, Laith Hasan ⁸, Dexter Hadley ⁹, Mohamad Aljabban ¹⁰ and Wael Jarjour ¹¹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, CA, ³Stanford School of Medicine, Stanford, ⁴Department of Neurology, Research Institute at Nationwide Children’s Hospital, Columbus, OH, ⁵Dorothy M. Davis Heart and Lung Research Institute & Dept. of Physiology & Cell Biology, The Ohio State University Wexner Medical Center, Columbus, OH, ⁶The Ohio State University College of Medicine, Columbus, OH, ⁷Ohio State University College of Medicine, Columbus, OH, ⁸Tulane School of Medicine, New Orleans, ⁹Institute for Computational Health Sciences, San Francisco, ¹⁰Genesys Health Systems, Grand Blanc, MI, ¹¹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease causing inflammatory changes to the skin and skeletal muscles. TRIM family proteins are composed of approximately…

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].