Abstracts tagged "Genome Wide Association Studies"

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…
Abstract Number: 1379 • ACR Convergence 2022
Association of HLA Alleles with Specific Auto-antibodies in an Ancestrally Diverse Population of Childhood Systemic Lupus Erythematosus (SLE)
Nicholas Gold¹, Fangming Liao¹, JingJing Cao¹, Daniela Dominguez¹, Andrea Knight², Deborah Levy³ and Linda Hiraki⁴, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ³Division of Rheumatology, The Hospital for Sick Children; Child Health Evaluative Services, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁴The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease capable of affecting multiple organ systems. Genetic variants in the Human Leukocyte Antigen (HLA) are associated…
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: 0525 • ACR Convergence 2021
STEAP3, FZD2 and EGFLAM Are Novel Genetic Risk Loci for Granulomatosis with Polyangitis: A Genome Wide Association Study from UK Biobank
Mehmet Hocaoglu¹, Jamal Mikdashi², Yi-Ju Chen², James Perry² and Charles Hong², ¹University of Maryland Medical Center, Midtown Campus, Baltimore, MD, ²University of Maryland School of Medicine, Baltimore, MD
Background/Purpose: Granulomatosis with Polyangitis (GPA) is a systemic ANCA associated small vessel vasculitis. Prior genetic studies demonstrated a strong association of HLA Class II region…
Abstract Number: 1669 • ACR Convergence 2020
Genetics of Age at Diagnosis in Systemic Lupus Erythematosus
Raffaella Carlomagno¹, Fangming Liao², JingJing Cao², Dafna Gladman³, Marisa Klein-Gitelman⁴, Andrea Knight⁵, Deborah Levy¹, Karen Onel⁶, Andrew Paterson², Christine Peschken⁷, Janet Pope⁸, Zahi Touma⁹, Murray Urowitz¹⁰, Declan Webber¹, Joan Wither¹¹, Earl D. Silverman¹² and Linda Hiraki¹³, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁴Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, ⁷Departments of Medicine and Community Health Sciences, University of Manitoba, Winnipeg, MB, Canada, ⁸Department of Medicine, University of Western Ontario, St. Joseph's Health Centre, London, ON, Canada, ⁹University of Toronto, Toronto, ON, Canada, ¹⁰University Health Network, University of Toronto, Toronto, ON, Canada, ¹¹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹²Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ¹³Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Genome wide association studies (GWAS) have identified >90 SNPs associated with systemic lupus erythematosus (SLE) risk. However, there may be additional loci impacting the…
Abstract Number: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
Abstract Number: 1954 • ACR Convergence 2020
Genome-wide Association Study of Sjögren’s Syndrome Identifies Ten New Risk Loci
Bhuwan Khatri¹, Tove Ragna Reksten², Kandice Tessneer³, Astrid Rasmussen¹, R. Scofield¹, Simon Bowman⁴, Joel Guthridge¹, Judith James⁵, Lars Ronnblom⁶, Blake Warner⁷, Xavier Mariette⁸, Roald Omdal⁹, Javier Martin¹⁰, Maria Teruel¹⁰, Janicke Liaaen Jensen¹¹, Lara Aqrawi¹¹, Øyvind Palm¹¹, Marie Wahren-Herlenius¹², Torsten Witte¹³, Roland Jonsson¹⁴, Maureen Rischmueller¹⁵, A Darise Farris¹, Marta Alarcon-Riquelme¹⁰, Wan-Fai Ng¹⁶, Kathy Sivils¹, Gunnel Nordmark¹⁷ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Bergen, Bergen, Norway, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴University Hospitals Birmingham, Birmingham, United Kingdom, ⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁶Uppsala University, Uppsala, Sweden, ⁷National Institute of Dental and Craniofacial Research, Bethesda, ⁸Paris-Sud University, Rueil-Malmaison, France, ⁹University of Oslo, Stavanger, Norway, ¹⁰Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹¹University of Oslo, Oslo, Norway, ¹²Karolinska Institute, Stockholm, Sweden, ¹³Medizinische Hochschule Hannover, Klinik für Rheumatologie und Immunologie und Regionales Kooperatives Rheumazentrum Niedersachsen e.V., Hannover, Germany, ¹⁴Haukeland University Hospital, Bergen, Norway, ¹⁵The Queen Elizabeth Hospital and Univ of Adelaide, St Peters, South Australia, Australia, ¹⁶Newcastle University, Gateshead, United Kingdom, ¹⁷Uppsala University, Copenhagen S, Sweden
Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with exocrine gland dysfunction leading to substantial morbidity, and 10 published genetic susceptibility loci. Our genome-wide…

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