Abstracts tagged "Genome"

Abstract Number: 164 • 2020 Pediatric Rheumatology Symposium
The Juvenile Idiopathic Arthritis-Associated IL2RA and IL6R Haplotypes Contain Enhancers Whose Functions Are Altered by JIA-Associated Genetic Variants
Kaiyu Jiang ¹, Yungki Park ², tao liu ³, Marc Sudman ⁴, Susan Thompson ⁵ and James Jarvis⁶, ¹University at Buffalo, Buffalo, ²University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, ³Roswell Park Cancer Institute, Buffalo, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, ⁶University at Buffalo Jacobs School of Medicine, Buffalo
Background/Purpose: The JIA risk haplotypes, like those of other autoimmune diseases, are highly enriched for H3K4me1/H3K27ac histone marks, epigenetic features typically associated with functional enhancers.…
Abstract Number: 1278 • 2018 ACR/ARHP Annual Meeting
Evaluating a Causal Role of Mitochondrial Variation in the Development of Gout
Amara Shaukat¹, Anna Gosling¹, Matthew Bixley¹, Amanda Phipps-Green¹, Tanya J. Major¹, Murray Cadzow¹, Nicola Dalbeth², Lisa K. Stamp³, Elizabeth Matisoo-Smith¹, Jennie Harre Hindmarsh⁴, Leo .A.B. Joosten⁵, Tim Jansen⁶, Matthijs Janssen⁶, Anne-Kathrin Tausche⁷, Philip Riches⁸, Alexander So⁹, Mariano Andres¹⁰, Geraldine M. McCarthy¹¹, Fernando Perez-Ruiz¹², Michael Doherty¹³, Rosa Torres¹⁴, Tom W.J. Huizinga¹⁵, Rachel Knevel¹⁶, Fina Kurreeman¹⁷ and Tony R. Merriman¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago, Christchurch, New Zealand, ⁴Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, ⁵Radboud University Medical Center, Nijmegen, Netherlands, ⁶VieCuri Medical Center, Venlo, Netherlands, ⁷Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, ⁸University of Edinburgh, Edinburgh, United Kingdom, ⁹University of Lausanne, Lausanne, Switzerland, ¹⁰Hospital General Universitario de Alicante-ISABIAL, Alicante, Spain, ¹¹Mater Misericordiae University Hospital, Dublin, Ireland, ¹²BioCruces Health Research Institute, Barakaldo, Spain, ¹³The University of Nottingham, Nottingham, United Kingdom, ¹⁴La Paz University Hospital, Madrid, Spain, ¹⁵Department of Rheumatology, LUMC, Leiden, Netherlands, ¹⁶Brigham and Women's Hospital, Boston, MA, ¹⁷Leiden University Medical Centre, Leiden, Netherlands
Background/Purpose: Mitochondria execute roles in diverse cellular pathways. As a danger signal, damaged mitochondria can induce inflammation in response to stress through NLRP3 inflammasome activation,…
Abstract Number: 1018 • 2017 ACR/ARHP Annual Meeting
Comprehensive Identification of Differentially Methylated Regions Associated with Systemic Sclerosis in Dermal Fibroblasts from African-American Patients
Paula S. Ramos^1,2, Willian da Silveira³, E. Starr Hazard³, Ilia Atanelishvili⁴, Robert C. Wilson⁵, Jim C. Oates¹, Galina S. Bogatkevich⁴ and Gary Hardiman^1,2,3, ¹Department of Medicine, Medical University of South Carolina, Charleston, SC, ²Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, ³Center for Genomic Medicine, Medical University of South Carolina, Charleston, SC, ⁴Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁵Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC
Background/Purpose: The etiology and reasons underlying the ethnic disparities in systemic sclerosis (SSc) remain unknown. African-Americans are disproportionally affected by SSc, yet dramatically underrepresented in…
Abstract Number: 1210 • 2016 ACR/ARHP Annual Meeting
A Genome-Wide Association Study of Psoriatic Arthritis in Italian Population
Mariagrazia Catanoso¹, Pierluigi Macchioni¹, Salvatore D'Angelo², Antonio Marchesoni³, Roberta Ramonda⁴, Alberto Cauli⁵, Fabio Massimo Perrotta⁶, Roberto Bortolotti⁷, Guseppe Provenzano⁸, Giovanni Pistone⁹, Katya Boito¹⁰, Cristina Giuliani¹¹, Paolo Garagnani¹¹, Davide Gentilini¹², Mariana Lofrano¹³, Laura Rotunno¹⁴, Mariagrazia Lorenzin¹⁵, Ignazio Olivieri¹³, Alessandro Mathieu¹⁶, Guido Valesini¹⁷, Giuseppe Paolazzi⁷, Roberto Baricchi¹⁸, Anna Maria Di Blasio¹², Luigi Boiardi¹⁹, Claudio Franceschi²⁰ and Carlo Salvarani¹, ¹Rheumatology Unit, Arcispedale S Maria Nuova, IRCCS, Reggio Emilia, Italy, ²Rheumatology Department of Lucania, San Carlo Hospital of Potenza and Madonna delle Grazie Hospital of Matera, matera, Italy, ³Rheumatology Unit, Orthopedic Institute G. Pini, Milano, Italy, ⁴Rheumatology Unit, Department of Medicine DIMED, University of Padova, Padova, Italy, ⁵University of Cagliari, Cagliari, Italy, ⁶Rheumatology Unit, Sapienza University, Department of Internal Medicine and Medical Specialties, Roma, Italy, ⁷Rheumatology Unit, Santa Chiara Hospital, Trento, Italy, ⁸Reumatology Unit, Villa Sofia-CTO Hospital, Palermo, Italy, ⁹Rheumatology Unit, ARNAS Civico, Di Cristina e Benfratelli Hospital, Palermo, Italy, ¹⁰Transfusion Medicine Unit,, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy, ¹¹Laboratory of Molecular Anthropology, Centre for Genome Biology University, Bologna, Italy, ¹²Laboratory of Molecular Biology, Istituto Auxologico Italiano, IRCCS, Milano, Italy, ¹³Rheumatology Department of Lucania, San Carlo Hospital of Potenza and Madonna delle Grazie Hospital of Matera, Matera, Italy, ¹⁴Orthopedic Institute G.Pini, Rheumatology Unit, Milano, Italy, ¹⁵Department of Medicine, University of Padova - Rheumatology Unit, Padova, Italy, ¹⁶Department of Medical Sciences, Rheumatology Unit - University of Cagliari, Cagliari, Italy, ¹⁷Internal Medicine and Medical Specialties Department, Policlinico Umberto I, La Sapienza University of Rome, Roma, Italy, ¹⁸Transfusion Medicine Unit, IRCCS S. Maria Nuova Hospital, Reggio Emilia, Italy, ¹⁹Rheumatology Unit, Arcispedale S.Maria Nuova, IRCCS, Reggio Emilia, Italy, ²⁰Laboratory of Molecular Anthropology & Centre for Genome Biology University of Bologna, Bologna, Italy
rexm-rs12191877 (p=4.87 x10-10, OR 1.731, 95%CI =1.46-2.06), exm-rs4947248 (p=1.98 x10-9 , OR 1.56, 95%CI = 1.35-1.80). Moreover, in PsA patients we identified signals of association…
Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting
Genome-Wide Association Study of Gout in New Zealand Polynesian People
Tanya Flynn¹, Ruth Topless¹, Murray Cadzow¹, Amanda Phipps-Green¹, Nick Burns¹, Nicola Dalbeth², Lisa K. Stamp³, Jennie Harre Hindmarsh⁴ and Tony R. Merriman⁵, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago, Christchurch, New Zealand, ⁴Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, ⁵Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand
Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…
Abstract Number: 3075 • 2016 ACR/ARHP Annual Meeting
Mitochondrial Genetic Variation, Copy Number and Susceptibility to Gout in the New Zealand Polynesian Population
Tony R. Merriman¹, James Boocock², Nicola Dalbeth³, Lisa K. Stamp⁴, Eli A. Stahl⁵, Hyon K. Choi⁶, Elizabeth Matisoo-Smith⁷ and Anna Gosling⁸, ¹Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³University of Auckland, Auckland, New Zealand, ⁴University of Otago, Christchurch, New Zealand, ⁵Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, ⁶Rheumatology, Allergy and Immunology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, ⁷Anatomy, University of Otago, Dunedin, New Zealand, ⁸Biochemistry, University of Otago, Dunedin, New Zealand
Background/Purpose: Mitochondria play a central role in induction of an NLRP3 inflammatory response essential for gouty pathology. Mitochondria are in part self-encoding, possessing a 16.5…
Abstract Number: 2045 • 2014 ACR/ARHP Annual Meeting
Interaction Effects Between Genes and Blood Lead Level on a Composite Score of Multiple Joint Symptoms: The Johnston County Osteoarthritis Project
Youfang Liu¹, Amanda Nelson² and Joanne M. Jordan³, ¹Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, ²5) Division of Rheumatology, Allergy, and Immunology and Thurston Arthritis Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, ³University of North Carolina Dept of Epidemiology, Chapel Hill, NC
Background/Purpose Previous studies suggested that blood lead level is associated with multiple joint symptoms. In this study, we conducted a Genome-Wide Gene-Environment Interactions analysis to…
Abstract Number: 1887 • 2014 ACR/ARHP Annual Meeting
Genome-Wide DNA Methylation Analysis of Twin Pairs Discordant for Systemic Sclerosis Reveals Distinct Signatures in Blood and Dermal Fibroblasts
Paula S. Ramos¹, Rick Jordan², James Lyons-Weiler², Thomas A. Medsger Jr.³ and Carol A. Feghali-Bostwick⁴, ¹Department of Medicine, Medical University of South Carolina, Charleston, SC, ²Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, ³Medicine/Rheumatology, University of Pittsburgh, Pittsburgh, PA, ⁴Medicine, Medical University of South Carolina, Charleston, SC
Background/Purpose Systemic sclerosis (SSc) is a chronic, multisystem, autoimmune inflammatory disease with genetic and non-genetic contributions to risk. The etiology of SSc, including the reasons…
Abstract Number: 1125 • 2014 ACR/ARHP Annual Meeting
The Mitochondrial Genome Influences the Risk of Incident Knee OA. DATA from the Osteoarthritis Initiative
Angel Soto-Hermida¹, Ignacio Rego-Pérez¹, Juan Fernández-Tajes¹, Mercedes Fernandez Moreno¹, María Eugenia Vázquez-Mosquera¹, Estefanía Cortés-Pereira¹, Sonia Pértega-Díaz², Natividad Oreiro-Villar¹, Carlos Fernandez-Lopez¹ and Francisco J. Blanco Garcia¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose Previous studies by our group showed a significant influence of the mtDNA haplogroups on both radiographic progression and cartilage integrity of knee OA patients…
Abstract Number: 979 • 2014 ACR/ARHP Annual Meeting
Genome-Wide Association Study for Severe Radiographic Knee Osteoarthritis
Youfang Liu¹, Michelle Yau², Laura Yerges-Armstrong³, Braxton Mitchell³, Rebecca D. Jackson⁴, Marc C. Hochberg⁵, Shad Smith⁶, William Maixner⁶, Luda Diatchenko⁷ and Joanne M. Jordan⁸, ¹Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, ²Epidemiology and Public Health, University of Maryland, Baltimore,, MD, ³Medicine, University of Maryland School of Medicine, Baltimore, MD, ⁴Division of Endocrinology, Diabetes, & Metabolism, Department of Internal Medicine, The Ohio State University, Columbus, OH, ⁵Division of Rheumatology & Clinical Immunology, University of Maryland School of Medicine, Baltimore, MD, ⁶Regional Center for Neurosensory Disorders, School of Dentistry,, University of North Carolina, Chapel Hill, NC, ⁷McGill University, Montreal, QC, Canada, ⁸University of North Carolina Dept of Epidemiology, Chapel Hill, NC
Background/Purpose Knee osteoarthritis (OA) is a heritable common joint disorder. In previously reported genetic studies, cases were usually defined with a radiographic Kellgren and Lawrence…

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