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: 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: 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…

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