Abstracts tagged "genetics"

Abstract Number: 1142 • ACR Convergence 2022
The Lupus Risk Allele Associated Xq28 Haplotype Identifies the Molecular Endotype of a Cohort of European SLE Patients with Enhanced IRAK1 Signaling
Rheyanna Clemens¹, Tyson Dawson¹, Katherine Owen², Amrie Grammer³ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL LLC, Charlottesville, VA
Background/Purpose: Previous genetic association studies identified a 9 gene region of Xq28 containing IRAK1 as a risk locus for SLE. IRAK1 plays key roles downstream…
Abstract Number: 1720 • ACR Convergence 2022
FASlpr Gene Dosage Differentiates Lymphoproliferative from Non-lymphoproliferative Autoimmunity – a Novel Mouse Model of Lupus
Ritu Bohat¹, Chunyu Xu¹, Xiaofang Liang¹, Yanping Chen¹, Ningbo Zheng¹, Roshni Jaffery¹, Ashley Guerrero¹, Nicholas Egan¹, John Hicks², Chandra mohan¹ and Weiyi Peng¹, ¹University of Houston, Houston, TX, ²Baylor College of Medicine, Houston, TX
Background/Purpose: Sle1 and FASlpr are two lupus susceptibility loci that lead to manifestations of systemic lupus erythematosus (SLE) by altering the FAS/FASL pathway and adaptive…
Abstract Number: 0617 • ACR Convergence 2022
Killer Cell Immunoglobulin Receptor and Class I HLA Genetic Variability in South-eastern Spanish Rheumatoid Arthritis Patients
Pablo Mesa-del-Castillo B.¹, Lourdes Gimeno Arias¹, Jose Miguel Bolarin², Luis Francisco Linares Ferrando¹, Alfredo Minguela-Puras¹ and Carlos Marras Fernández Cid¹, ¹Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain, ²IT Tecnological Center (CENTIC), Murcia, Spain
Background/Purpose: Rheumatoid arthritis (RA) is a common chronic inflammatory disorder characterized by bone erosions and progressive joint destruction. Genetic, epigenetic and environmental factors may induce…
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: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 0639 • ACR Convergence 2022
Association of Gut Microbiome Streptococcus, Health Status, Cytokines, and HLA Class in Anti-Ro+ Mothers of Children with Neonatal Lupus: Insights into Progression of Clinical Autoimmunity
Robert Clancy¹, Joel Guthridge², Miranda Marion³, Hannah Ainsworth⁴, Marci Beel², Christina Firl⁵, Nicola Fraser⁶, Nour Hachemian⁵, Timothy Howard⁴, Peter Izmirly¹, Mala Masson⁷, Melissa Munroe², Jill Buyon¹, Judith James² and Carl Langefeld⁸, ¹NYU Grossman School of Medicine, New York, NY, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Wake Forest University, Winston-Salem, NC, ⁴Wake Forest School of Medicine, Winston-Salem, NC, ⁵NYU Langone Health, New York, NY, ⁶NYU School of Medicine, New York, NY, ⁷NYU Langone Medical Center- Division of Rheumatology, New York, NY, ⁸Wake Forest School of Medicine, Winston Salem, NC
Background/Purpose: High titer anti-Ro+ mothers of children with neonatal lupus (NL), often completely asymptomatic, offer a unique opportunity to uncover insights into permissive and protective…
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: 1853 • ACR Convergence 2022
A Comparitive Study of NLRP3- and NLRP12-autoinflammatory Disease
Mark Yun, Brianne Navetta-Modrov, Hafsa Nomani, Jie Yang and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: NLRP3-associated autoinflammatoy disease (NLRP3-AID) and NLRP12-AID are rare autosomal dominant diseases. FACS1(familial cold autoinflammatory syndrome type 1), a subset of NLRP3-AID, is thought to…
Abstract Number: 0656 • ACR Convergence 2022
Association Study Identified HLA-DQA1 as a Genetic Risk of Systemic Lupus Erythematosus-associated Pulmonary Arterial Hypertension
Junyan Qian¹, Ying Chen², Xinzhuang Yang³, Qian Wang⁴, JIULIANG ZHAO⁵, Xiaoyue Deng¹, Shengjie Li³, Yongtai Liu⁶, Zhuang Tian⁶, Juan Shen², Qijun Liao², Yanhong Wang⁷, Xianbo Zuo⁸, Xuejun Zhang⁹, MENGTAO LI¹, Yong Cui⁸, Xueqing Yu¹⁰ and Xiaofeng Zeng¹¹, ¹Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, State Key Laboratory of Complex Severe and Rare Diseases, Ministry of Science & Technology, Beijing, China, ²BGI-Shenzhen, Shenzhen, China, ³Medical Research Center, State Key laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ⁴Peking Union Medical College Hospital, Beijing, China, ⁵Beijing Union Medical College Hospital, Beijing, China, ⁶Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China, ⁷Department of Epidemiology and Bio-statistics, Institute of Basic Medical Sciences, China Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ⁸Department of Dermatology, China-Japan Friendship Hospital, Beijing, China, ⁹Institute of Dermatology, Anhui Medical University, Hefei, China, ¹⁰Division of Nephrology, Guangdong Provincial People’s Hospital and Guangdong Academy of Medical Sciences, Guangzhou, China, ¹¹Department of Rheumatology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Beijing, China
Background/Purpose: Pulmonary arterial hypertension (PAH) is a rare and severe complication of systemic lupus erythematosus (SLE). Human leucocyte antigen (HLA) gene variants in the major…
Abstract Number: 1155 • ACR Convergence 2022
Epigenome-Wide Integrative Association Study on Spondyloarthritis and Psoriatic Arthritis
Elena Carnero-Montoro¹, Ivan Arias-de la Rosa², Clementina Lopez-Medina³, lourdes Ladehesa-Pineda⁴, Rafaela Ortega-Castro², Daniel Toro-Domínguez¹, Manuel Martinez-Bueno¹, Raúl López-Domínguez⁵, Olivia Castellini-Pérez¹, Guillermo Barturen¹, Nuria Barbarroja², Eduardo Collantes² and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, Spain, ³Reina Sofia University Hospital, Rheumatology Department, Jaén, Spain, ⁴Reina Sofia University Hospital/Rheumatology Department/Maimonides Institute for Biomedical Research (IMIBIC), Cordoba, Spain, ⁵University of Granada, Granada, Spain
Background/Purpose: An important role of DNA methylation changes in Spondylitis Ankylosing has been recently demonstrated by epigenome-wide studies. However, there is a lack of genome-wide…
Abstract Number: 1936 • ACR Convergence 2022
A De Novo Dominant-negative PSMB8 mutation is Linked to a More Severe CANDLE-like Phenotype
Sara Alehashemi¹, Adriana Almeida de Jesus², Jonas Johannes Papendorf³, Farzana Bhuyan⁴, Kat Uss⁵, Anvitha Metpally⁶, Bin Lin⁷, Sophia Park⁸, Thais C.L. Moura⁹, Renata R Dias⁹, Mayra B. Dorna⁹, Katia Kozu⁹, Adriana Sallum⁹, Lucia M. A. Campos⁹, Gijs Santen¹⁰, Jesper Kers¹⁰, Onno Teng¹¹, Karin Palmblad¹², Tom Huizinga¹⁰, Frédéric Ebstein¹³, Elke Krüger¹³ and Raphaela Goldbach-Mansky¹⁴, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Silver Spring, MD, ³Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany, ⁴National Institutes of Health, Bethesda, MD, ⁵National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁶NIAID, NIH, Bethesda, MD, ⁷NIH, Bethesda, MD, ⁸NIAID, Bethesda, MD, ⁹Children's Hospital of the University of São Paulo, São Paulo, Brazil, ¹⁰Leiden University Medical Center, Leiden, Netherlands, ¹¹Leiden University Medical Center, Leiderdorp, Netherlands, ¹²Karolinska University Hospital, Stockholm, Sweden, ¹³Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ¹⁴NIH/NIAID, Potomac, MD
Background/Purpose: Homozygote (HM)/compound heterozygote (CH) and digenic (DG) mutations in proteasome subunits cause the autoinflammatory syndrome CANDLE, or proteasome-associated autoinflammatory syndrome (PRAAS). Inflammation is mediated…
Abstract Number: 0532 • ACR Convergence 2021
Development of a Predictive Tool for the Rapid Progressive Knee Osteoarthritis Phenotype: Data from the Osteoarthritis Initiative
Alejandro Durán-Sotuela¹, Mercedes Fernández-Moreno¹, Maria Vázquez-Mosquera¹, Paula Ramos-Louro¹, Andrea Dalmao-Fernández¹, Sara Relaño¹, Victoria Suárez-Ulloa², Vanesa Balboa-Barreiro³, Natividad Oreiro¹, Jorge Vázquez-García¹, Francisco Blanco-García⁴ and Ignacio Rego-Pérez¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006. A Coruña, España, A Coruña, Spain, ²Plataforma de Bioinformática. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006, A Coruña, Spain, ³Unidad de apoyo a la Investigación. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). As Xubias, 15006. A Coruña, España, A Coruña, Spain, ⁴Unidad de Proteómica. Grupo de Investigación de Reumatología (GIR). Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC). C/ As Xubias de Arriba 84, 15006, A Coruña, España.Universidade da Coruña (UDC), Grupo de Investigación de Reumatología y Salud (GIR-S). Departamento de Fisioterapia, Medicina y Ciencias Biomédicas, Facultad de Fisioterapia, Campus de Oza, 15008, A Coruña, España., A Coruña, Spain
Background/Purpose: There is a pressing need of identifying patients suffering the rapid progressive phenotype of Osteoarthritis (RPOA) to implement prevention strategies and to include them…
Abstract Number: 1580 • ACR Convergence 2021
Whole Blood Gene Expression and eQTL Analysis Implicate GGT7 and FADS2 in Gout Pathogenesis
Richard Reynolds¹, Riku Takei¹, Jeffrey Edberg¹, Nicholas Sumpter¹, Tony Merriman² and Megan Leask¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Dunedin, New Zealand
Background/Purpose: Gene expression studies of whole blood represent a powerful approach for understanding the pathogenesis of gout because differentially expressed transcripts may reflect the activation…
Abstract Number: 0533 • ACR Convergence 2021
Identification of a Novel Susceptibility Locus for Small Vessel Vasculitis with Autoantibodies Against Myeloperoxidase
Johanna Dahlqvist¹, Diana Ekman², Bengt Sennblad², Sergey Kozyrev³, Jessika Nordin², Åsa Karlsson³, Jennifer Meadows³, Erik Hellbacher¹, Solbritt Rantapaa-Dahlqvist⁴, Ewa Berglin⁵, Bernd Stegmayr⁵, Bo Baslund⁶, Øyvind Palm⁷, Hilde Haukeland⁷, Iva Gunnarsson⁸, Annette Bruchfeld⁸, Mårten Segelmark⁹, Sophie Ohlsson⁹, Aladdin Mohammad⁹, Anna Svärd¹⁰, Rille Pullerits¹¹, Hans Herlitz¹¹, Annika Söderbergh¹², Gerli Rosengren Pielberg³, Fabiana Farias³, Lina Hultin Rosenberg³, Matteo Bianchi³, Eva Muren³, Roald Omdal¹³, Roland Jonsson¹⁴, Maija-Leena Eloranta³, Lars Ronnblom³, Peter Söderkvist¹⁵, Ann Knight¹⁶, Per Eriksson¹⁵ and Kerstin Lindblad-Toh¹⁷, ¹Uppsala University and University Hospital, Uppsala, Sweden, ²Science for Life Laboratory, Uppsala University, Uppsala, Sweden, ³Uppsala University, Uppsala, Sweden, ⁴Ume University, Umea, Sweden, ⁵Umeå University and University Hospital, Umeå, Sweden, ⁶University of Copenhagen, Copenhagen, Denmark, ⁷Oslo University, Oslo, Norway, ⁸Karolinska Institute, Stockholm, Sweden, ⁹Lund University, Lund, Sweden, ¹⁰Uppsala University, Falun, Sweden, ¹¹Gothenburg University and Sahlgrenska Hospital, Gothenburg, Sweden, ¹²Dept. of Rheumatology, Örebro University Hospital, Örebro, Sweden, ¹³Stavanger University Hospital and University of Bergen, Stavanger, Norway, ¹⁴University of Bergen, Bergen, Norway, ¹⁵Linköping University, Linköping, Sweden, ¹⁶Rheumatology, Institute of Medical Sciences, Uppsala University, Uppsala, Sweden, ¹⁷Broad Institute of MIT and Harvard; and Uppsala University, Boston, MA
Background/Purpose: ANCA-associated vasculitides (AAV) are rare but aggressive autoimmune disorders. The pathogenesis of the disorders is complex and still poorly understood; only a few genetic…
Abstract Number: 1581 • ACR Convergence 2021
Genetic Effects on the Transition from Hyperuricemia to Gout
Nicholas Sumpter¹, Riku Takei¹, Richard Reynolds¹ and Tony Merriman², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Dunedin, New Zealand
Background/Purpose: There is clear evidence of genetic control of hyperuricemia resulting in increased gout risk, however genetic control of the transition from hyperuricemia to gout…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].