Abstracts tagged "Genome Wide Association Studies"

Abstract Number: 0896 • ACR Convergence 2024
Identification of Immune Pathways Regulated by a Non-Coding Variant at DNASE1L3/PXK/PDHB
Michelle Morency¹, Taehyeung Kim¹ and Peter Nigrovic², ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Brookline, MA
Background/Purpose: Rheumatoid arthritis (RA) is a prevalent autoimmune disease in which aberrant immune attacks on joints and other tissues leads to permanent and disabling injury.…
Abstract Number: 0900 • ACR Convergence 2024
Association Between Serum Urate, Gout, and Prostatic Cancer in European Male Populations: A Mendelian Randomization Study
Sumanth Chandrupatla¹, Nicholas Sumpter¹, Tony Merriman² and Jasvinder Singh³, ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Homewood, AL, ³Baylor College of Medicine, Birmingham, AL
Background/Purpose: Gout and serum urate (SU) are associated with prostate cancer risk. Previous Mendelian randomization (MR) studies have shown mixed results on the causal relationship…
Abstract Number: 0902 • ACR Convergence 2024
Novel Role of TYK2mechanism in SLE Pathogenesis via T Cell and B Cell Pathways
Joshua Hoffman¹, Nicole Narayan² and Mera Tilley¹, ¹Alumis Inc, South San Francisco, CA, ²Alumis, South San Francisco, CA
Background/Purpose: SLE is a complex disease in need of novel therapies. Previously reported genome-wide association studies (GWAS) have identified a strong association between SLE and…
Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Katherine Owen¹, Isaac Peabody², Mikhail Olferiev³, Tyson Dawson², Prathyusha Bachali⁴, Peter Kasson⁵, Amrie Grammer⁶, Mary Crow³ and Peter Lipsky², ¹RILITE, Charlottesville, VA, ²Ampel Biosolutions, Charlottesville, VA, ³Hospital for Special Surgery, New York, NY, ⁴AMPEL BioSolutions, Redmond, WA, ⁵University of Virginia, Charlottesville, VA, ⁶AMPEL LLC, Charlottesville, VA
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…
Abstract Number: 0911 • ACR Convergence 2024
Activating B Cells Facilitates the Discovery of Latent Disease-associated Variants
David Murphy, Yao Fu, Jennifer Kelly, Richard Pelikan, Graham Wiley and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Although millions of disease-associated variants have been discovered using GWAS, most of these occur in non-coding regions and their mechanistic link to disease is…
Abstract Number: 0913 • ACR Convergence 2024
The Association Between PTPN2 and Leukopenia in New Users of Azathioprine
Puran Nepal¹, Laura L. Daniel², Jacy Zanussi², Alyson L. Dickson³, Wei-Qi Wei³, Adriana M. Hung⁴, Nancy J. Cox³, Vivian K. Kawai³, Jonathan D. Mosley³, C. Michael Stein³, QiPing Feng³, Ge Liu³, Ran Tao³ and Cecilia P. Chung², ¹Vanderbilt University Medical Center, Vanderbilt, TN, ²University of Miami, Miami, FL, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Leukopenia is a common dose-dependent side effect of azathioprine and often results in discontinuation of the drug. Variants in TPMT and NUDT15 have been…
Abstract Number: 0914 • ACR Convergence 2024
RAB19 and Azathioprine-Associated Pancreatic Injury in Patients Taking Azathioprine
Shailja C. Shah¹, Tyler S. Reese², Laura L. Daniel³, Puran Nepal⁴, Jacy Zanussi³, Alyson L. Dickson², Ran Tao², Adriana M. Hung⁵, Wei-Qi Wei², C. Michael Stein², QiPing Feng² and Cecilia P. Chung³, ¹University of California, San Diego, San Diego, CA, ²Vanderbilt University Medical Center, Nashville, TN, ³University of Miami, Miami, FL, ⁴Vanderbilt University Medical Center, Vanderbilt, TN, ⁵Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Pancreatitis is a rare, but potentially life-threatening adverse event associated with the use of azathioprine. Prior studies have found an association between the HLA…
Abstract Number: 0915 • ACR Convergence 2024
APOH Locus Associated with Higher Anti-Beta-2-Glycoprotein 1 Antibody Levels Paradoxically Protects Against Venous Thromboembolism
Yiming Luo, Lili Liu, Atlas Khan, R. Graham Barr, Elana Bernstein and Krzysztof Kiryluk, Columbia University Irving Medical Center, New York, NY
Background/Purpose: Anti-Beta-2-glycoprotein 1 antibody (anti-B2GP1) is associated with antiphospholipid syndrome (APS), a rare autoimmune disease that causes venous thromboembolism (VTE). APOH, which expresses the B2GP1…
Abstract Number: 1803 • ACR Convergence 2024
Genetics of eGFR Variability as a Proxy for Lupus Nephritis in Patients with Systemic Lupus Erythematosus
Magdalena Riedl Khursigara¹, Nicholas Gold², Thai-Son Tang³, JingJing Cao⁴, Daniela Dominguez⁴, Marisa Klein-Gitelman⁵, Dafna Gladman⁶, Daniel Goldman⁷, Elizabeth Harvey⁴, Mariko Ishimori⁸, Caroline Jefferies⁹, Diane Kamen¹⁰, Sylvia Kamphuis¹¹, Andrea Knight¹², Chia-Chi Lee¹³, Deborah Levy², Damien Noone⁴, Karen Onel¹⁴, Christine Peschken¹⁵, Michelle Petri⁷, Janet Pope¹⁶, Eleanor Pullenayegum⁴, Earl Silverman¹⁷, Zahi Touma¹⁸, Murray Urowitz¹⁹, Daniel Wallace²⁰, Joan Wither²¹ and Linda Hiraki², and Systemic Lupus Erythematosus Collaborative Clinics (SLICC), ¹University of Toronto, Cambridge, MA, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Toronto, Mississauga, ON, Canada, ⁴The Hospital for Sick Children, Toronto, Canada, ⁵Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁶University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁷Johns Hopkins University School of Medicine, Timonium, MD, ⁸Cedars-Sinai Health System, Los Angeles, CA, ⁹Cedars-Sinai Medical Center, Beverly Hills, CA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Erasmus University Medical Center, Rotterdam, Netherlands, ¹²Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ¹³Cedars-Sinai Medical Center, Los Angeles, CA, ¹⁴HSS, New York, NY, ¹⁵University of Manitoba, Winnipeg, MB, Canada, ¹⁶University of Western Ontario, London, ON, Canada, ¹⁷Silverman, Toronto, ON, Canada, ¹⁸University of Toronto, Toronto, ON, Canada, ¹⁹Self employed, Toronto, ON, Canada, ²⁰Cedars Sinai Medical Center, Studio City, CA, ²¹University Health Network, Toronto, ON, Canada
Background/Purpose: Lupus nephritis (LN) is one of the most common and severe manifestations of systemic lupus erythematosus (SLE). We performed genome wide association studies (GWAS)…
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…

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