Abstracts tagged "Genome Wide Association Studies"

Abstract Number: 2289 • ACR Convergence 2024
Associations Between Protein Quantitative Trait Loci and Risk of Primary Sjögren’s Syndrome: A Mendelian Randomization Study
Benjamin Zuckerman¹, Alasdair Warwick², art Schuermans³, Mark Gibson⁴, Ioasaf Karafotias⁵, Zijing Yang¹, Carine moezinia⁶, Mark Russell⁷, Chris Wincup⁸, James Galloway⁹ and Sizheng Zhao¹⁰, ¹King's College London, London, England, United Kingdom, ²University college London, London, United Kingdom, ³KU Leuven, Leuven, Belgium, ⁴King's College London, Newmarket, United Kingdom, ⁵King's College London, London, United Kingdom, ⁶univerity college hospital, London, United Kingdom, ⁷King's College London, London, United Kingdom, ⁸King's College Hospital, London, United Kingdom, ⁹Centre for Rheumatic Diseases, King's College London, London, United Kingdom, ¹⁰Centre for Musculoskeletal Research, The University of Manchester, Liverpool, United Kingdom
Background/Purpose: The pathophysiology of primary Sjögren’s disease involves the interaction of genetic, epigenetic, and environmental factors. With limited treatment options for severe disease, a detailed understanding…
Abstract Number: 2533 • ACR Convergence 2024
Genome-wide Association of Rheumatoid Arthritis in the African Ancestry Identifies HLA Amino Acid Polymorphisms of Risk
Harrison Zhang¹, Saori Sakaue², Daniel Posner³, Jing Cui⁴, Dorris Yang⁵, Ashley Budu-Aggrey⁶, Yuk-Lam Ho³, Lauren Costa³, Rachael Matty³, Selena Huang¹, Paul Monach⁷, Kazuyoshi Ishaigaki⁸, Monika Maripuri⁷, Connor Melley⁷, Vidisha Tanukonda⁷, Rahul Sangar³, Gregory McDermott⁹, Mary Jeffway¹, Vincent Laufer¹⁰, Yukinori Okada¹¹, Ian Scott¹², S. Louis Bridges¹³, Kelly Cho³, Chuan Hong¹⁴, Jennifer E. Huffman¹⁵, Tianxi Cai¹⁶, Soumya Raychaudhuri¹ and Katherine Liao¹, and the VA Million Veteran Program, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Cambridge, MA, ³U.S. Department of Veterans Affairs, Boston, MA, ⁴Brigham Women's Hospital, Boston, MA, ⁵Harvard Medical School, Cambridge, MA, ⁶Bristol Medical School, Manchester, United Kingdom, ⁷VA Boston Healthcare System, Boston, MA, ⁸Keio University School of Medicine, Tokyo, Japan, ⁹Brigham and Women's Hospital, Brookline, MA, ¹⁰Michigan Medicine, Birmingham, AL, ¹¹Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, ¹²School of Medicine, Keele University, Keele, United Kingdom, ¹³Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹⁴Duke University, Durham, NC, ¹⁵VA Boston Healthcare System, Palo Alto, ¹⁶Harvard T.H. Chan School of Public Health, Boston, MA
Background/Purpose: The association between RA and the MHC is largely explained by five amino acid (AA) positions: DRB1 positions 11, 13, 71, and 74, HLA-B…
Abstract Number: 2602 • ACR Convergence 2024
Genetics of Sex Dimorphism in Clinical Manifestations of Systemic Lupus Erythematosus
Caseng Zhang¹, Nicholas Gold², Raffaella Carlomagno³, JingJing Cao⁴, Daniela Dominguez⁴, Dafna Gladman⁵, Mariko Ishimori⁶, Caroline Jefferies⁷, Diane Kamen⁸, Sylvia Kamphuis⁹, Marisa Klein-Gitelman¹⁰, Andrea Knight¹¹, Chia-Chi Lee¹², Deborah Levy², Lawrence Ng², Karen Onel¹³, Andrew Paterson⁴, Christine Peschken¹⁴, Janet Pope¹⁵, Earl Silverman¹⁶, Zahi Touma¹⁷, Murray Urowitz¹⁸, Daniel Wallace¹⁹, Joan Wither²⁰ and Linda Hiraki², ¹University of Ottawa, Ottawa, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Lausanne University Hospital, Toronto, ON, Canada, ⁴The Hospital for Sick Children, Toronto, Canada, ⁵University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁶Cedars-Sinai Health System, Los Angeles, CA, ⁷Cedars-Sinai Medical Center, Beverly Hills, CA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Erasmus University Medical Center, Rotterdam, Netherlands, ¹⁰Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹¹Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ¹²Cedars-Sinai Medical Center, Los Angeles, CA, ¹³HSS, New York, NY, ¹⁴University of Manitoba, Winnipeg, MB, Canada, ¹⁵University of Western Ontario, London, ON, Canada, ¹⁶Silverman, Toronto, ON, Canada, ¹⁷University of Toronto, Toronto, ON, Canada, ¹⁸Self employed, Toronto, ON, Canada, ¹⁹Cedars Sinai Medical Center, Studio City, CA, ²⁰University Health Network, Toronto, ON, Canada
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex chronic autoimmune disease with multi-organ involvement and a strong female predominance. Prior studies demonstrated sex dimorphism in…
Abstract Number: 0958 • ACR Convergence 2023
Shared Genetic Susceptibility Between Systemic Sclerosis and Primary Biliary Cholangitis: Analyses from Genome-Wide Association Studies
Yiming Luo¹, Atlas Khan², Gabriel Perreault³, Lili Liu², Cue Hyunkyu Lee⁴, Pravitt Gourh⁵, Sydney Pomenti³, Krzysztof Kiryluk² and Elana Bernstein⁶, ¹Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ²Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ³Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ⁴Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY
Background/Purpose: Systemic sclerosis (SSc) is a multi-system autoimmune disorder characterized by organ inflammation, fibrosis, and vasculopathy. Primary biliary cholangitis (PBC) is an autoimmune disorder involving…
Abstract Number: 1710 • ACR Convergence 2023
Genetic Associations in Juvenile Idiopathic Arthritis Determined with an Electronic Health Record Based Approach
Elizabeth Jasper, Srushti Gangireddy, Henry Ong, Jacklyn Hellwege, Todd Edwards, Digna Velez Edwards, Wei-Qi Wei and Anna Patrick, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Juvenile idiopathic arthritis (JIA) encompasses multiple forms of pediatric autoimmune arthritis. Research studies in JIA are complicated by disease heterogeneity and difficulties gathering large…
Abstract Number: 1833 • ACR Convergence 2023
Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores
Jeffrey Rosenfeld¹, Greta Linse², Sally Slipher², Candace Flint³, Annie Iserson³, Herbert Harris⁴, Jean Engels³, Gregory Sullivan⁵ and Seth Lederman⁶, ¹Tonix Pharmaceuticals, Chatham, NJ, ²Montana State University, Bozeman, MT, ³Tonix Pharmaceuticals, New York, NY, ⁴Tonix Pharmaceuticals, Chapel Hill, NC, ⁵Tonix Pharmaceuticals Inc, Chatham, NJ, ⁶Tonix Pharmaceuticals, South Dartmouth, MA
Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…
Abstract Number: 0027 • ACR Convergence 2023
Association of HLA-DRB1 and ANKRD55/IL6ST Regions with Polymyalgia Rheumatica Diagnosis: A Genome Wide Association Study from UK Biobank and FinnGen
Mehmet Hocaoglu¹, Jamal Mikdashi², James Perry² and Charles Hong², ¹University of Maryland School of Medicine, Pittsburgh, PA, ²University of Maryland School of Medicine, Baltimore, MD
Background/Purpose: The existing literature on the genetics of polymyalgia rheumatica (PMR) is limited to candidate gene studies with small sample sizes. There is a need…
Abstract Number: 0034 • ACR Convergence 2023
Genome-Wide Association Study for Loci Associated with Positive Antinuclear Antibodies in a Large Hospital Biobank
Jing Cui¹, Jeong Yee², Liming Liang³, Jack Ellrodt², Emily G. Oakes², Hongshu Guan² and Karen Costenbader⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Harvard T.H. Chan School of Public Health, Boston, MA, ⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Antinuclear antibodies (ANA) to intranuclear particles are found in the blood of people with and without autoimmune diseases. To our knowledge, only 1 past…
Abstract Number: 0560 • ACR Convergence 2023
Genetic Determinants of Lupus Nephritis and Kidney Function in Systemic Lupus Erythematosus
Magdalena Riedl Khursigara¹, Nicholas Gold², Thai-Son Tang³, Daniela Dominguez², Marisa Klein-Gitelman⁴, Dafna Gladman⁵, Daniel Goldman⁶, Elizabeth Harvey², Mariko Ishimori⁷, Caroline Jefferies⁷, Diane L. Kamen⁸, Sylvia Kamphuis⁹, Andrea Knight², Chia-Chi Lee⁷, Deborah Levy², Damien Noone², Karen Onel¹⁰, Christine Peschken¹¹, Michelle Petri⁶, Janet Pope¹², Eleanor Pullenayegum², Earl Silverman¹³, Zahi Touma¹, Murray Urowitz¹⁴, Daniel Wallace⁷, Joan Wither¹⁵ and Linda Hiraki², ¹University of Toronto, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Toronto, Mississauga, ON, Canada, ⁴Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁵Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada, ⁶Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ⁷Cedars-Sinai Medical Center, Los Angeles, CA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Sophia Children’s Hospital, Rotterdam, Netherlands, ¹⁰Hospital for Special Surgery, New York, NY, ¹¹University of Manitoba, Winnipeg, MB, Canada, ¹²University of Western Ontario, London, ON, Canada, ¹³Silverman, Toronto, ON, Canada, ¹⁴Schroeder Arthritis Institute, Krembil Research Institute; University of Toronto Lupus Clinic; Division of Rheumatology, Toronto, ON, Canada, ¹⁵University Health Network, Toronto, ON, Canada
Background/Purpose: Lupus nephritis (LN) is one of the most common and severe manifestation of SLE. Risk factors for lupus nephritis and renal function decline are…
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: 0788 • ACR Convergence 2023
Whole Exome Sequencing and Evolutionary Action Missense Mutation Analysis Identifies MICB as a New SSc Susceptibility Locus and the Interferon Pathway as Contributors to SSc Pathogenesis
Shamika Ketkar¹, Hongzheng Dai¹, Brian Dawson¹, Lindsay Burrage¹, David Murdock¹, Jennifer Asmussen¹, Kevin Wilhelm¹, Olivier Lichtarge¹, Martin Kerick², Javier Martin³, Shervin Assassi⁴, Brendan Lee¹ and Maureen Mayes⁵, ¹Baylor College of Medicine, Houston, TX, ²Spanish National Research Council, Granada, Spain, ³Instituto de Parasitologia y Biomedicina Lopez-Neyra - CSIC, Granada, Spain, ⁴University of Texas McGovern Medical School at Houston, Houston, TX, ⁵Division of Rheumatology, University of Texas McGovern Medical School, Houston, TX
Background/Purpose: Systemic Sclerosis (SSc) is characterized by fibrosis of the skin and internal organs associated with vasculopathy and autoantibodies and exhibiting wide clinical heterogeneity. Contributors…
Abstract Number: 0930 • ACR Convergence 2023
Genetic Risk Profiles of Patients with Lupus Nephritis to Identify Those at Risk for Kidney Deterioration and Eventual Damage
Aastha Khatiwada¹, bethany wolf², Isabelle Ayoub³, Juan Mejia-Vilet⁴, Ana Malvar⁵, Carl Langefeld⁶, Brad Rovin³, Jim Oates² and Betty Tsao², ¹National Jewish Health, Denver, CO, ²Medical University of South Carolina, Charleston, SC, ³Ohio State University, Columbus, OH, ⁴Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico, ⁵Hospital Fernandez, Buenos Aires, Argentina, ⁶Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Many genetic variants are associated with lupus nephritis (LN). Yet, the majority of associated variants have a small effect size; hence, they convey small…
Abstract Number: 0336 • ACR Convergence 2022
Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record
Yi-Ming Chen¹, Tzu-Hung Hsiao¹, Seng-Cho Chou² and Chi-Wei Chung², ¹Taichung Veterans General Hospital, Taichung, Taiwan, ²Department of Information Management, National Taiwan University, Taipei, Taiwan
Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…
Abstract Number: 1146 • ACR Convergence 2022
Genetic Interactions Between T-Cell Receptor Polymorphisms and HLA Amino Acids Contribute to the Risk of Rheumatoid Arthritis
Chuan Fu Yap¹, Paul Martin², Darren Plant¹, John Bowes¹, Kazuyoshi Ishigaki³, Saori Sakaue⁴, Alex Macgregor⁵, Suzanne Verstappen¹, Anne Barton¹, Soumya Raychaudhuri⁶ and Sebastien Viatte¹, ¹The University of Manchester, Manchester, United Kingdom, ²The University of Manchester, Oberhaching, Germany, ³Riken, Bunkyo-ku, Tokyo, Japan, ⁴Broad Institute of Harvard and MIT, Cambridge, MA, ⁵The University of East Anglia, Norwich, United Kingdom, ⁶Brigham and Women's Hospital, Boston, MA
Background/Purpose: Rheumatoid arthritis (RA) genetic susceptibility has been well studied with five amino acid positions within the HLA explaining most of the association. Although genome…
Abstract Number: 1148 • ACR Convergence 2022
GWAS Identified New Genes in Synovial Fibroblasts Linked to Early Remission in RA
Marc Maurits¹, lydia Abasolo Alcazar², Erik van den Akker³, Johan Askling⁴, Anne Barton⁵, Stephan Blüml⁶, Stephan Böhringer⁷, Andrew Cope⁸, Paul Emery⁹, Stephen Eyre⁵, Priya Gaddi⁵, Isidoro Gonzalez¹⁰, Carl Goodyear¹¹, Annette van der Helm-van Mil¹², Xinli Hu¹³, Tom Huizinga³, John D Isaacs¹⁴, Scott Jelinsky¹³, Martina Johannesson⁴, Samantha Jurado Zapata³, Changlin Ke³, Lars Klareskog⁴, Dennis Lendrem¹⁵, Myles Lewis¹⁶, Mingdong Liu³, Paul Martin¹⁷, Iain B McInnes¹⁸, Raphael Micheroli¹⁹, Ann Morgan²⁰, Fraser Morton¹¹, Najib Naamane¹⁵, Gisela Orozco⁵, Caroline Ospelt²¹, Leonid Padyukov⁴, Caron Paterson¹¹, Darren Plant⁵, Duncan Porter²², Arthur Pratt²³, Soumya Raychaudhuri²⁴, Louise Reynard¹⁵, Luis Rodriguez-Rodriguez²⁵, Daniela Sieghart²⁶, Paul Studenic⁶, John Taylor²⁷, René Toes³, Marloes Verstappen³, Suzanne Verstappen⁵, Helga Westerlind⁴, Aaron Winkler¹³ and Rachel Knevel³, ¹LUMC, Leiden, Netherlands, ²IDISSC Hospital Clinico San Carlos, Madrid, Spain, ³Leiden University Medical Center, Leiden, Netherlands, ⁴Karolinska Institutet, Stockholm, Sweden, ⁵The University of Manchester, Manchester, United Kingdom, ⁶Medical University of Vienna, Vienna, Austria, ⁷Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Leiden, Netherlands, ⁸King's College London, Surrey, United Kingdom, ⁹Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom, ¹⁰Hospital Universitario de La Princesa, Madrid, Spain, ¹¹University of Glasgow, Glasgow, Scotland, United Kingdom, ¹²Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands, ¹³Pfizer Inc., Cambridge, MA, ¹⁴Institute for Translational and Clinical Research, Newcastle University and Musculoskeletal Unit, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom, ¹⁵Newcastle University, Newcastle, United Kingdom, ¹⁶Queen Mary University of London, London, United Kingdom, ¹⁷The University of Manchester, Oberhaching, Germany, ¹⁸Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom, ¹⁹University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland, ²⁰University of Leeds, Leeds, United Kingdom, ²¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ²²Gartnavel General Hospital, Bearsden, United Kingdom, ²³Newcastle University, Newcastle upon Tyne, United Kingdom, ²⁴Brigham and Women's Hospital, Boston, MA, ²⁵Instituto de Investigación Sanitaria San Carlos, Rheumatology, Madrid, Spain, ²⁶Division of Rheumatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria, ²⁷University of Leeds, Euclid, OH
Background/Purpose: In order to understand the genetic factors that lead to early remission in RA, we performed a GWAS to uncover important biological pathways.Methods: We…

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