Abstracts tagged "genomics"

Abstract Number: 0562 • ACR Convergence 2022
Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D
Mariana Correia Marques¹, Danielle Rubin², Emily Shuldiner², Elizabeth Schmitz², Elizabeth Baskin², Andrew Patt³, Alexei Grom⁴, Dirk Foell⁵, Marco Gattorno⁶, John Bohnsack⁷, Rae Yeung⁸, Sampath Prahalad⁹, Elizabeth Mellins¹⁰, Jordi Antón¹¹, Claudio Len¹², Sheila Oliveira¹³, Patricia Woo¹⁴, Seza Ozen¹⁵, INCHARGE Consortium¹⁶ and Michael Ombrello¹⁷, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ³National Center for Advancing Translational Sciences, Bethesda, MD, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁵University Hospital Münster, Münster, Germany, ⁶Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁷University of Utah, Salt Lake City, UT, ⁸The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁹Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁰Stanford University, Stanford, CA, ¹¹Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹²Universidade Federal de São Paulo, São Paulo, Brazil, ¹³Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁴University College London, London, United Kingdom, ¹⁵Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁶International Childhood Arthritis Genetics Consortium, Bethesda, MD, ¹⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a genetically complex inflammatory condition. It can be marked by severe systemic inflammation that resembles the hereditary periodic…
Abstract Number: 1552 • ACR Convergence 2022
Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis
Hugh Alessi¹, Yiming Luo¹, Kaitlin Quinn² and Peter Grayson³, ¹NIH, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
Abstract Number: 1622 • ACR Convergence 2022
TNF Receptor 1 Drives Murine Pulmonary Arterial Hypertension and Is Characterized by Loss of Capillary Endothelial Cells and Pericytes, Smooth Muscle Cell Proliferation, and Alterations in Fibroblast Phenotype
Stacey Duemmel¹, Marc Nuzzo¹, Soumyaroop Bhattacharya¹, Qingfu Xu¹, Amy Mohan¹ and Benjamin Korman², ¹URMC, Rochester, NY, ²University of Rochester, Rochester, NY
Background/Purpose: We previously demonstrated that TNF-transgenic (TNF-Tg) mice have findings consistent with connective-tissue disease associated pulmonary arterial hypertension (CTD-PAH), and that this pathology is mediated…
Abstract Number: 0565 • ACR Convergence 2022
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissues Using Single-cell Computational Omics
Juan Vargas¹, Nirmal Banda², Ian Mantel³, Anna Jonsson⁴, Kevin Wei⁵, Deepak Rao⁴, Susan Goodman⁶, Kevin D Deane⁷, Jennifer Seifert⁸, Jennifer Anolik⁹, Michael Brenner¹⁰, Soumya Raychaudhuri⁴, Accelerating Medicines Partnership RA/SLE⁴, Michael Holers², Laura Donlin⁶ and Fan Zhang⁸, ¹School Public Health Biostatistics Department, Aurora, CO, ²Department of Medicine Division of Rheumatology, Aurora, CO, ³Weill Cornell Medicine, New York, NY, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Hospital for Special Surgery, New York, NY, ⁷University of Colorado Denver Anschutz Medical Campus, Denver, CO, ⁸University of Colorado, Aurora, CO, ⁹University of Rochester Medical Center, Rochester, NY, ¹⁰Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in experimental models of autoimmune arthritis pathogenesis. In patients…
Abstract Number: 1663 • ACR Convergence 2022
Age-Dependent Expansion and Activation of Disease-Associated Microglia in Neuropsychiatric Symptoms of Systemic Lupus Erythematosus
Hadijat Makinde¹, Caroline Shah¹, Miranda Gurra¹, Yidan Wang¹, Deborah Winter² and Carla Cuda¹, ¹Northwestern University, Chicago, IL, ²Northwestern University, Skokie, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease that affects multipe end organs, including the brain. Despite a prevalence of over 50% in…
Abstract Number: 0603 • ACR Convergence 2022
Survivin-dependent Regulation of Bivalent Chromatin and Its Relevance for Adaptive Immunity
Venkataragavan Chandrasekaran¹, Nina Oparina², Karin Andersson², Malin Erlandsson², Maria-Jose Garcia-Bonete³, Maja Jensen⁴, Gergely Katona⁵ and Maria Bokarewa⁶, ¹Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden, ²Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Goteborg, Sweden, ³Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden, ⁴Department of Chemistry and Molecular Biology, Gothenburg, Sweden, ⁵Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden, ⁶Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden
Background/Purpose: Bivalent chromatin (BvCR) is characterized by simultaneous binding of active and repressive modifications to the histone H3 proteins. Influencing expression of the genes, BvCR…
Abstract Number: 1666 • ACR Convergence 2022
Differentiation of Injury-associated Macrophages in Lupus Kidneys Is Conserved in Humans and Lupus Mouse Models
Paul Hoover¹, David Lieb², Stephen Li², Chirag Raparia³, Accelerating Medicines Partnership SLE/RA⁴, Arnon Arazi⁵, Nir Hacohen² and Anne Davidson⁶, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Cambridge, MA, ³Donald and Barbara Zucker School of Medicine At Hofstra/Northwell, Shoreham, NY, ⁴NIH, Bethesda, MD, ⁵Feinstein Institutes for Medical Research, Melrose, MA, ⁶Feinstein Institutes for Medical Research, Manhasset, NY
Background/Purpose: Infiltrating monocytes acquire functions that support kidney remodeling in response to tissue damage in lupus nephritis. This process of monocyte differentiation has been difficult…
Abstract Number: 0643 • ACR Convergence 2022
Subsetting SLE Patients Based on DNA Methylation at the Time of Disease Flare
Mary Horton¹, Joanne Nitithalm², Kimberly Taylor³, Laura Trupin⁴, Patricia Katz⁵, Jinoos Yazdany⁶, Maria Dall'Era⁷, Lisa Barcellos⁸, Lindsey Criswell⁹ and Cristina M Lanata¹⁰, ¹NIH/NHGRI, Oakland, CA, ²NIH/NHGRI, Bethesda, MD, ³University of Californi, San Francisco, San Francisco, CA, ⁴UC San Francisco, San Francisco, CA, ⁵UCSF, San Rafael, CA, ⁶UCSF, San Francisco, CA, ⁷University of California, Division of Rheumatology, San Francisco, CA, ⁸School of Public Health, UC Berkeley; National Human Genome Research Institute, National Institutes of Health, Berkeley, CA, ⁹National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁰NIH/NHGRI, Washington, DC
Background/Purpose: Current treatments for SLE do not adequately prevent disease progression. This lack of efficacy, in part, relates to the molecular heterogeneity of disease. The…
Abstract Number: 1678 • ACR Convergence 2022
A Genome-Wide Association Analysis of 2,622,830 Individuals Reveals New Pathogenic Pathways in Gout
Tony Merriman¹, Hirotaka Matsuo², Riku Takei³, Megan Leask³, Ruth Topless¹, Yuya Shirai⁴, Zhiqiang Li⁵, Murray Cadzow¹, Richard Reynolds³, kenneth saag³, Tayaza Fadason⁶, Justin O'Sullivan⁶, Nicola Dalbeth⁶, Lisa Stamp⁷, Abhishek Abhishek⁸, Michael Doherty⁸, Edward Roddy⁹, Lennart Jacobsson¹⁰, Meliha Kapetanovic¹¹, Mariano Andrès¹², Fernando Perez-Ruiz¹³, Rosa Torres Jimenez¹⁴, Timothy Radstake¹⁵, Timothy Jansen¹⁶, Matthijs Janssen¹⁷, Leo Joosten¹⁸, Tania Octavia Crisan¹⁹, Tom Huizinga²⁰, Frederic LIOTE²¹, Pascal Richette²², Thomas Bardin²³, Tristan Pascart²⁴, Geraldine McCarthy²⁵, Blanka Stiburkova²⁶, Anne Tausche²⁷, Till Uhlig²⁸, Veronique Vitart²⁹, Philip Riches²⁹, Stuart Ralston²⁹, Thomas MacDonald³⁰, Akiyoshi Nakayama², Masahiro Nakatochi³¹, Kimiyoshi Ichida³², Tappei Takada³³, Chaeyoung Lee³⁴, Matthew Brown³⁵, Philip Robinson³⁶, Catherine Hill³⁷, Hyon Choi³⁸, Nicholas Sumpter³, Marilyn Merriman³, Amanda Phipps-Green¹, Wenhua Wei¹, Sally McCormick¹, Olle Melander³⁹, René Toes²⁰, Hang-Korng Ea²¹, Fina Kurreeman²⁰, Laura Helbert²⁵, Thibaud Boutin²⁹, Nariyoshi Shinomiya², Linda Bradbury⁴⁰, Russell Buchanan⁴¹, Susan Lester³⁷, Malcolm Smith⁴², Maureen Rischmueller⁴³, On behalf of Japan Gout Genomics Consortium (J-Gout)⁴⁴, On behalf of Japan Multi-Instl Collab Cohort Study (J-MICC)⁴⁵, Eli Stahl⁴⁶, Jeff Miner⁴⁷, Daniel Solomon⁴⁸, Jing Cui⁴⁸, Kathleen Giacomini⁴⁹, Deanna Brackman⁴⁹, Eric Jorgenson⁵⁰, On behalf of 23andMe Research Team⁵¹, Suyash Shringapure⁵¹, Alexander So⁵², Yukinori Okada⁴, Changgui Li⁵, Yongyong Shi⁵³ and Tanya Major¹, ¹University of Otago, Dunedin, New Zealand, ²National Defense Medical College, Saitama, Japan, ³University of Alabama at Birmingham, Birmingham, AL, ⁴Osaka University, Suita, Osaka, Japan, ⁵The Affiliated Hospital of Qingdao University, Qingdao, China, ⁶University of Auckland, Auckland, New Zealand, ⁷University of Otago, Christchurch, New Zealand, ⁸University of Nottingham, Nottingham, United Kingdom, ⁹Keele University, Keele, United Kingdom, ¹⁰Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden, ¹¹Lund University, Department for clinical sciences Lund, section of rheumatology and Lund University Hospital Lund and Malmö, Lund, Sweden, ¹²Dr Balmis Alicante General University Hospital-ISABIAL, Alicante, Spain, ¹³University of the Basque Country, Barakaldo, Spain, ¹⁴La Paz University Hospital, Madrid, Spain, ¹⁵University Medical College Uthrecht, Utrecht, Netherlands, ¹⁶VieCuri Medical Centre, Venlo, Netherlands, ¹⁷Rijnstate Hospital, Bennekom, Netherlands, ¹⁸Radboudumc, Nijmegen, Netherlands, ¹⁹University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania, ²⁰Leiden University Medical Center, Leiden, Netherlands, ²¹University of Paris, Paris, France, ²²Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, ²³Hôpital Lariboisiere, Paris, France, ²⁴Lille Catholic University, Lille, France, ²⁵Mater Misericordiae University Hospital, Dublin, Ireland, ²⁶Institute of Rheumatology, Prague, Czech Republic, ²⁷University Clinic 'Carl Gustav Carus' at the Technical University, Dresden, Germany, ²⁸Diakonhjemmet Hospital, Oslo, Norway, ²⁹University of Edinburgh, Edinburgh, Scotland, United Kingdom, ³⁰University of Dundee, Dundee, United Kingdom, ³¹Nagoya University Hospital, Nagoya, Japan, ³²Tokyo University of Pharmacy and Life Sciences, Hachioji, Japan, ³³University of Tokyo Hospital, Tokyo, Japan, ³⁴Soongsil University, Seoul, Republic of Korea, ³⁵Genomics England, London, United Kingdom, ³⁶University of Queensland, Brisbane, Australia, ³⁷The Queen Elizabeth Hospital, Adelaide, Australia, ³⁸Massachusetts General Hospital, Lexington, MA, ³⁹Lund University, Malmö, Sweden, ⁴⁰Gold Coast University Hospital, Brisbane, Australia, ⁴¹Austin Health, Heidelberg, Australia, ⁴²Flinders Medical Centre, Adelaide, Australia, ⁴³RheumatologySA, Adelaide, Australia, ⁴⁴Japan Gout Genomics Consortium (J-Gout), Saitama, Japan, ⁴⁵Japan Multi-Institutional Collaborative Cohort Study (J-MICC), Nagoya, Japan, ⁴⁶Regeneron, New York, NY, ⁴⁷ViscientBio, San Diego, CA, ⁴⁸Brigham and Women's Hospital, Boston, MA, ⁴⁹University of California San Francisco, San Francisco, CA, ⁵⁰Kaiser Permanente, San Francisco, CA, ⁵¹23andMe, Inc., Sunnyvale, CA, ⁵²University of Lausanne, Lausanne, Switzerland, ⁵³Shanghai Jiao Tong University, Shanghai, China
Background/Purpose: Genome-wide association studies (GWAS) in gout have been relatively small (≤13,179 people with gout) and have provided little insight into the progression from hyperuricemia…
Abstract Number: 0774 • ACR Convergence 2022
HLA-DQ2 Is Associated with Anti-drug Antibody Formation to Infliximab Across Immune-mediated Inflammatory Diseases
Marthe K. Brun¹, Kristin Hammersbøen Bjørlykke², Marte Kathrine Viken³, Grete-Elisabeth Stenvik¹, Rolf Klaasen³, Johanna Elin Gehin³, David Warren³, Joe Sexton¹, Espen Haavardsholm¹, Jørgen Jahnsen², Benedicte Alexandra Lie³, Nils Bolstad³, Kristin Kaasen Jørgensen², Guro Løvik Goll¹ and Silje Watterdal Syversen¹, ¹Diakonhjemmet Hospital, Oslo, Norway, ²Akershus University Hospital, Oslo, Norway, ³Oslo University Hospital, Oslo, Norway
Background/Purpose: Immunogenicity is a leading cause of treatment failure to TNF inhibitors, and also affects drug safety. Variations in HLA class II genes have been…
Abstract Number: 1699 • ACR Convergence 2022
Arthritis-associated Synovial CD64-Ly6c- myeloid Cells Comprise 2 Subpopulations
Yidan Wang¹, Miranda Gurra¹, Carla Cuda¹, Hadijat Makinde¹, Shangyang Chen¹, Gaurav Gadhvi¹, Salina Dominguez¹, Caroline Shah¹, Deborah Winter² and Harris Perlman¹, ¹Northwestern University, Chicago, IL, ²Northwestern University, Skokie, IL
Background/Purpose: Monocytes are critical for the pathogenesis of rheumatoid arthritis (RA). However, depletion of circulating monocytes – either classical or non-classical monocytes – is not…
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: 1727 • ACR Convergence 2022
BATF Represses BIM Expression to Sustain the T Cell Anergy Program
Philip Titcombe, Milagros Silva-Morales, Na Zhang and Daniel Mueller, University of Minnesota, Minneapolis, MN
Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…
Abstract Number: 1927 • ACR Convergence 2021
Heterogeneity of Juvenile Idiopathic Arthritis Synovial Fibroblasts Correlates to Disease Progression and Provides Compelling Diagnostic Data
Megan Simonds¹, Kathleen Sullivan², Carlos Rose³ and AnneMarie Brescia⁴, ¹Nemours, Wilmington, DE, ²The Children's Hospital of Philadelphia, Philadelphia, PA, ³Thomas Jefferson University/duPont Hospital for Children, Wilmington, DE, ⁴Nemours/A.I.duPont Hospital for Children, Wilmington, DE
Background/Purpose: Juvenile Idiopathic Arthritis (JIA) induces growth disturbances in affected joints. Fibroblast-like synoviocytes (FLS) play a crucial role in JIA pathogenesis; however, the mechanisms by…

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