Abstracts tagged "genetics"

Abstract Number: 1290 • ACR Convergence 2023
Development of a Genetic Risk Score for Pain in Rheumatoid Arthritis
Katie McMenamin¹, Kristin Wipfler², Austin Wheeler³, Grant Cannon⁴, K Wysham⁵, Brian Sauer⁶, Bryant England³, Kaleb Michaud³, Ted R Mikuls⁷ and Joshua Baker⁸, ¹Boston University, Boston, MA, ²FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ³University of Nebraska Medical Center, Omaha, NE, ⁴University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁵VA Puget Sound/University of Washington, Seattle, WA, ⁶Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁷Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE, ⁸University of Pennsylvania, Philadelphia, PA
Background/Purpose: Pain in rheumatoid arthritis (RA) is multifactorial and involves processes beyond inflammation such as peripheral and central pain processing. Several genes have been associated…
Abstract Number: 2311 • ACR Convergence 2023
Effect on Lupus Outcomes of the Protective Allele at rs1876453 in the Complement Receptor 2 Gene
Ani Oganesyan¹, Rachel Sharp², Philip O’Neill³, Cynthia Aranow⁴, Laurent Arnaud⁵, Anca Askanase⁶, Sang-Cheol Bae⁷, Sasha Bernatsky⁸, Ian Bruce⁹, Jill Buyon¹⁰, Winn Chatham¹¹, Ann Clarke¹², Nathalie Costedoat-Chalumeau¹³, Mary Anne Dooley¹⁴, Paul R. Fortin¹⁵, Ellen Ginzler¹⁶, Dafna Gladman¹⁷, Caroline Gordon¹⁸, John G. Hanly¹⁹, Murat Inanç²⁰, David Isenberg²¹, Soren Jacobsen²², Andreas Jonsen²³, Kenneth Kalunian²⁴, Diane L. Kamen²⁵, S. Sam Lim²⁶, Anselm Mak²⁷, Eric Morand²⁸, Christine Peschken²⁹, Michelle Petri³⁰, Bernando A. Pons-Estel³¹, Anisur Rahman³², Rosalind Ramsey-Goldman³³, John Reynolds³⁴, Juanita Romero-Diaz³⁵, Guillermo Ruiz-Irastorza³⁶, Jorge Sanchez-Guerrero³⁷, Kristjan Steinsson³⁸, Murray Urowitz³⁹, Ronald van Vollenhoven⁴⁰, Evelyne Vinet⁴¹, Alexandre Voskuyl⁴², Daniel Wallace⁴³, Susan Manzi⁴⁴, Kenneth L. Jones⁴⁵ and Susan A. Boackle⁴⁶, ¹University of Colorado Anschutz Medical Campus, Aurora, CO, ²University of North Carolina at Chapel Hill, Chapel Hill, NC, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Feinstein Institutes for Medical Research, Manhasset, NY, ⁵University Hospitals of Strasbourg, Strasbourg, France, ⁶Columbia University Medical Center, New York, NY, ⁷Hanyang University Hospital for Rheumatic Diseases and Hanyang University Institute for Rheumatology Research, Department of Rheumatology, Seoul, South Korea, ⁸Research Institute of the McGill University Health Centre, Montreal, QC, Canada, ⁹University of Manchester, Manchester, United Kingdom, ¹⁰NYU Grossman School of Medicine, New York, NY, ¹¹University of Alabama at Birmingham, Birmingham, AL, ¹²University of Calgary, Division of Rheumatology, Cumming School of Medicine, Calgary, AB, Canada, ¹³Inserm DR Paris 5, Paris, France, ¹⁴Raleigh Neurology Associates, Chapel Hill, NC, ¹⁵Centre ARThrite - CHU de Québec - Université Laval, Quebec City, QC, Canada, ¹⁶SUNY Downstate Health Sciences University, Brooklyn, NY, ¹⁷Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada, ¹⁸Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, ¹⁹Dalhousie University, Halifax, NS, Canada, ²⁰Istanbul University, Istanbul, Turkey, ²¹University College London, London, United Kingdom, ²²Rigshospitalet, Copenhagen, Denmark, ²³Rheumatology, Department of Clinical Sciences, Lund University, Lund, Sweden, ²⁴University of California San Diego, La Jolla, CA, ²⁵Medical University of South Carolina, Charleston, SC, ²⁶Emory University, Atlanta, GA, ²⁷Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore, ²⁸Monash University, Centre for Inflammatory Diseases, Melbourne, Australia, ²⁹University of Manitoba, Winnipeg, MB, Canada, ³⁰Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ³¹Study Group of the Argentine Society of Rheumatology for Systemic Lupus Erythematosus, Buenos Aires, Argentina, ³²Centre for Rheumatology, Division of Medicine, University College London, London, United Kingdom, ³³Northwestern University, Chicago, IL, ³⁴University of Birmingham, Birmingham, United Kingdom, ³⁵Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico, ³⁶Hospital Universitario Cruces, Barakaldo, Spain, ³⁷University Health Network, Toronto, ON, Canada, ³⁸Landspitali University Hospital, Reykjavik, Iceland, ³⁹Schroeder Arthritis Institute, Krembil Research Institute; University of Toronto Lupus Clinic; Division of Rheumatology, Toronto, ON, Canada, ⁴⁰Amsterdam University Medical Centers, Amsterdam, Netherlands, ⁴¹McGill University Health Centre, Montréal, QC, Canada, ⁴²Amsterdam Rheumatology and Immunology Center, Amsterdam, Netherlands, ⁴³Cedars-Sinai Medical Center, Los Angeles, CA, ⁴⁴Lupus Center of Excellence, Autoimmunity Institute, Allegheny Health Network, Pittsburgh, PA, ⁴⁵Bioinformatics Solutions, Sheridan, WY, ⁴⁶None, Denver, CO
Background/Purpose: Systemic lupus erythematosus is a heterogenous autoimmune disease characterized by inflammatory damage to multiple organ systems. We have shown that the single-nucleotide polymorphism (SNP)…
Abstract Number: 0032 • ACR Convergence 2023
Quantification of the Escape from X Chromosome Inactivation with the Million Cell-scale Human Blood Single-cell RNA-seq Datasets Reveals Heterogeneity of Escape Across Immune Cells and Escape in the Autoimmune Disease Conditions
Yoshihiko Tomofuji¹, Ryuya Edahiro¹, Yuya Shirai¹, Kyuto Sonehara², Qingbo Wang¹, Atsushi Kumanogoh¹ and Yukinori Okada³, ¹Osaka University, Suita, Japan, ²University of Tokyo, Tokyo, Japan, ³University of Tokyo / Osaka University / RIKEN, Tokyo, Japan
Background/Purpose: Understanding the differences in the immune system between sexes is important to elucidate the pathogenesis of autoimmune diseases which are more prevalent in females…
Abstract Number: 0734 • ACR Convergence 2023
Immune Isoform Atlas: Landscape of Alternative Splicing in Human Immune Cells and Involvement of Dysregulated Alternative Splicing in Autoimmune Diseases
Jun Inamo¹, Akari Suzuki², Mahoko Takahashi Ueda¹, Kensuke Yamaguchi¹, Hiroshi Nishida³, Katsuya Suzuki⁴, Yuko Kaneko⁵, Tsutomu Takeuchi⁶, Hiroaki Hatano⁷, Kazuyoshi Ishigaki⁸, Yasushi Ishihama³, Kazuhiko Yamamoto⁹ and Yuta Kochi¹, ¹Tokyo Medical and Dental University, Tokyo, Japan, ²RIKEN Center for Integrative Medical Science, Kanagawa, Japan, ³Kyoto University, Kyoto, Japan, ⁴Keio University, Shinjuku, Japan, ⁵Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan, ⁶Keio University School of Medicine and Saitama Medical University, Tokyo, Japan, ⁷Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ⁸RIKEN, Tokyo, Japan, ⁹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan
Background/Purpose: Alternative splicing events play a critical role in the immune system1,2 and one of major causal mechanisms for complex traits including immune-mediated diseases (IMDs),…
Abstract Number: 1613 • ACR Convergence 2023
Tetrodotoxin Sensitive Nav1.7 Sodium Channel SCN9A Gene Polymorphism rs6754031(T >G) Is Associated with Fibromyalgia
Koshy Nithin Thomas, Shivika Guleria, Amita Aggarwal and Able Lawrence, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India
Background/Purpose: SCN9A gene encodes a tetrodotoxin sensitive Nav1.7 Sodium channel expressed in dorsal root ganglia, peripheral nerves, olfactory nerves and inner ear. Rare Mutations in…
Abstract Number: 2318 • ACR Convergence 2023
The Association Between Systemic Lupus Erythematosus (SLE) and Bone Mineral Density (BMD) Polygenic Risk Scores with Lumbar Spine BMD Z-score: A Retrospective Cohort Study
Vrati Mehra¹, Daniela Dominguez², Nicholas Gold², Andrea Knight², Deborah Levy², Fangming Liao², Eleanor Pullenayegum², Amer Shammas², etienne Sochett², Reza vali², Declan Webber³, Earl Silverman⁴ and Linda Hiraki², ¹The Hospital for Sick Children & University of Toronto, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Toronto, Mississauga, ON, Canada, ⁴Silverman, Toronto, ON, Canada
Background/Purpose: Childhood-onset systemic lupus erythematosus patients < 18 years (cSLE) are at risk for reduced bone mineral density (BMD) due to disease activity and chronic…
Abstract Number: 0035 • ACR Convergence 2023
Using Genotyping and Functional Data from Monocytes to Identify Risk-Driving SNPs on JIA Risk Haplotypes
Emma Haley¹, gilad Barshad², Adam He², Edward J Rice³, Elizabeth Crinzi¹, Marc Sudman⁴, Susan Thompson⁵, Charles G Danko³ and James N Jarvis⁶, ¹Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, ²Cornell University, Ithaca, NY, ³Baker Institute of Animal Health Cornell University, Ithaca, NY, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, ⁶University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…
Abstract Number: 0738 • ACR Convergence 2023
A Genome-wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome
Desire Casares¹, Manuel Martínez-Bueno², Maria Orietta Borghi³, Guillermo Pons-Estel⁴, PRECISESADS Clinical Consortium², Yu Zuo⁵, Gerard Espinosa⁶, Alexandra Zhernakova⁷, Cisca Wijmenga⁷, Timothy Radstake⁸, Lucas van den Hoogen⁹, Guillermo Reales¹⁰, Chris Wallace¹⁰, Joel Guthridge¹¹, Judith James¹¹, Ricard Cervera¹², Pierluigi Meroni¹³, Javier Martin¹⁴, Jason Knight⁵, Marta Alarcon-Riquelme¹⁵ and Amr Sawalha¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Centre for Genomics and Oncological Research, Granada, Spain, ³University of Milan, Milan, Italy, ⁴CREAR, Rosario, Argentina, ⁵University of Michigan, Ann Arbor, MI, ⁶Hospital Clinic, Barcelona, Spain, ⁷University of Groningen, Groningen, Netherlands, ⁸University Medical Center Utrecht, Carlisle, IL, ⁹Radboudumc and Sint Maartenskliniek, Nijmegen, Netherlands, ¹⁰University of Cambridge, Cambridge, United Kingdom, ¹¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹²Hospital Clínic de Barcelona, Barcelona, Spain, ¹³IRCCS Istituto Auxologico Italiano, Cusano Milanino, Milan, Italy, ¹⁴Instituto de Parasitologia y Biomedicina Lopez-Neyra - CSIC, Granada, Spain, ¹⁵Center for Genomics and Oncological Research (GENYO), Granada, Spain
Background/Purpose: Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy…
Abstract Number: 1671 • ACR Convergence 2023
Use of Metagenomic Microbial Plasma Cell-Free DNA Next-Generation Sequencing Assay in Outpatient Rheumatology Practice
Rachel Jenkins, Matthew Samec, Courtney Arment and Matthew Koster, Mayo Clinic, Rochester, MN
Background/Purpose: Metagenomic next-generation sequencing (mNGS) of microbial cell-free DNA (mcfDNA) allows for non-invasive broad-range pathogen detection from plasma. The Karius test (KT) is a commercially…
Abstract Number: 2368 • ACR Convergence 2023
Is Skin Disease a Local Manifestation of Systemic Tissue Turnover? Serological Collagen Biomarkers Provide Important Information on Skin Diseases Arising from Mutations in Collagen Genes
Signe Holm Nielsen¹, Matej Anđelić², Dovile Sinkeviciute¹, Anne-Christine Bay-Jensen¹ and Morten Karsdal¹, ¹Nordic Bioscience, Herlev, Denmark, ²Nordic Bioscience, Copenhagen, Denmark
Background/Purpose: Collagens are the main constituents of the skin. Genetic mutations in type VI, VII, and XVII collagen cause skin diseases, such as atopic dermatitis,…
Abstract Number: 0036 • ACR Convergence 2023
Using Genotyping and Chromatin Data in CD4+ T Cells to Nominate Causal Variants on JIA Risk Haplotypes and to Identify Their Target Genes
Emma Haley¹, gilad Barshad², Kaiyu Jiang³, Adam He², Edward J Rice⁴, Marc Sudman⁵, Susan Thompson⁶, Elizabeth Crinzi¹, Charles G Danko⁴ and James N Jarvis⁷, ¹Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, ²Cornell University, Ithaca, NY, ³University at Buffalo, Buffalo, NY, ⁴Baker Institute of Animal Health Cornell University, Ithaca, NY, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁶Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, ⁷University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive risk has…
Abstract Number: 0757 • ACR Convergence 2023
Identification of 23 Novel COPA Rare Exonic Non-Synonymous Variants and Their Associated Autoimmune and Inflammatory Clinical Phenotypes Among 53,364 Individuals
Pierre-Antoine Juge¹, Gregory McDermott², Keigo Hayashi², Jing Cui³, Clémence David-Gabarre⁴, Marie-Louis Frémond⁴, Holly Wobma⁵, Soumya Raychaudhuri², Elizabeth Karlson², Philippe Dieudé⁶ and Jeffrey Sparks⁷, ¹Division of Rheumatology, Inflammation, and Immunity Brigham & Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Imagine, Paris, France, ⁵Division of Immunology, Boston Children's Hospital, Boston, MA, ⁶Assistance Publique-Hôpitaux de Paris, Bichat-Claude Bernard University Hospital, INSERM UMR1152, University de Paris Cité, Department of Rheumatology, Paris, France, ⁷Division of Rheumatology, Inflammation, and Immunity, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA
Background/Purpose: COPA syndrome is a rare, severe monogenic autoinflammatory/autoimmune disorder with variable penetrance, most commonly affecting the lungs and joints. It is caused by dominant…
Abstract Number: 1708 • ACR Convergence 2023
In Cis SOCS1 Variants Illustrate the Precise Regulation of Interferon Signaling Needed to Prevent Autoimmunity
Yan Du¹, Evan Hsu², Kailey Brodeur³, Meng Liu⁴, Mindy Lo⁵, Craig Platt³ and Pui Lee⁵, ¹Harvard medical school, Boston, MA, ²Wesleyan University, Newton, MA, ³Boston Children's Hospital, Boston, MA, ⁴Southern Medical University, Boston, MA, ⁵Division of Immunology, Boston Children's Hospital, Boston, MA
Background/Purpose: Systemic autoimmunity can be driven by monogenic or polygenic risk variants. We aimed to characterize the genetic basis of disease in a family with…
Abstract Number: 2370 • ACR Convergence 2023
C5 as a Genetic Marker for Discriminating Between IgA Vasculitis and IgA Nephropathy?
JOAO CARLOS BATISTA LIZ¹, Vanesa Calvo Río², María Sebastián Mora-Gil¹, Belén Sevilla-Pérez³, María Teresa Leonardo⁴, Ana Peñalba⁴, María Jesús Cabero⁴, Javier Narvaez⁵, luis martin penagos⁶, Emilio Rodrigo⁶, Lara Belmar-Vega⁶, Cristina Gomez-Fernandez⁷, Luis Caminal-Montero⁸, Paz Collado⁹, Antonio Fernandez-Nebro¹⁰, gisela Díaz-Cordovés¹¹, Maryia Nikitsina¹², Esther Vicente Rabaneda¹³, secundino Cigarrán¹⁴, jesús Calviño¹⁵, carmen cobelo¹⁵, Manuel León Luque¹⁶, Esteban Rubio¹⁶, Juan María Blanco-Madrigal¹⁷, Eva Galindez-Agirregoikoa¹⁸, Santos Castañeda¹⁹, Ricardo Blanco²⁰, Verónica Pulito-Cueto¹ and Raquel López-Mejías¹, ¹Rheumatology Department, Immunopathology Group, Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain, ²Valdecilla Hospital, Santander, Spain, ³Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ⁴Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Hospital Universitario de Bellvitge, Barcelona, Spain, ⁶Division of Nephrology, Immunopathology Group, Hospital Universitario Marqués de Valdecilla-DIVAL, Santander, Spain, ⁷Division of Dermatology,Immunopathology Group, Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain, ⁸Internal Medicine Department, Hospital Universitario Central de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain, ⁹Division of Rheumatology, Hospital Universitario Severo Ochoa, Madrid, Spain, ¹⁰Hospital Regional Universitario de Málaga, Malaga, Spain, ¹¹Division of Rheumatology, Hospital Regional Universitario Carlos Haya, Málaga, Spain, ¹²Division of Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹³Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹⁴Division of Nephrology, Hospital da Costa Burela, Lugo, Spain, ¹⁵Division of Nephrology, Hospital Universitario Lucus Augusti, Lugo, Spain, ¹⁶Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ¹⁷Division of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain, ¹⁸Basurto University Hospital, Bilbao, Spain, ¹⁹Hospital Universitario de la Princesa, Madrid, Spain, ²⁰Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
Background/Purpose: Immunoglobulin-A vasculitis (IgAV) and IgA nephropathy (IgAN) are inflammatory conditions that share pathophysiological mechanisms1,2. Similar features are also described between IgAV nephritis (IgAVN) and…
Abstract Number: 0079 • ACR Convergence 2023
CD4 T Cell Repertoire Features in RA Patients with High-risk HLA-DRB1 Alleles
Amit Lakhanpal¹, Kazuyoshi Ishigaki², Anvita Singaraju¹, Alejandro Kochen³, Miriam Fein¹, Soumya Raychaudhuri⁴ and Laura Donlin¹, ¹Hospital for Special Surgery, New York, NY, ²RIKEN, Tokyo, Japan, ³Yale School of Medicine, New Haven, CT, ⁴Brigham and Women's Hospital, Boston, MA
Background/Purpose: A role for CD4 T cells in RA pathology is supported by the effectiveness of T cell therapies, genetic studies implicating T cell gene…

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