Abstracts tagged "Genetic Biomarkers"

Abstract Number: 132 • 2019 ACR/ARP Annual Meeting
Anti-phosphatidylserine/prothrombin Antibodies Confer a Distinctive Molecular Profile in Primary Antiphospholipid Syndrome Patients
Chary Lopez-Pedrera¹, Mª Ángeles Aguirre-Zamorano ², Laura Pérez-Sanchez ³, Alejandra Patiño-Trives ¹, Maria Luque-Tevar ¹, Alejandro Ibañez-Costa ¹, Ivan Arias de la Rosa ⁴, Maria del Carmen Abalos-Aguilera ¹, Lourdes Alacaide-Ruggiero ⁵, Rafaela Ortega ¹, Nuria Barbarroja ⁶, Eduardo Collantes-Estevez ⁴, Massimo Radin ⁷, Irene Cecchi ⁷, Savino Sciascia ⁸ and Carlos Perez-Sanchez ⁹, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ³MIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ⁴University of Cordoba/IMIBIC/Reina Sofia Hospital, Cordoba, Spain, ⁵University of Cordoba, Cordoba, Spain, ⁶University of Cordoba/IMIBIC/Reina Sofia Hospital and CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Cordoba, Spain, ⁷University of Turin, Turin, Italy, ⁸Center of Research of Immunopathology and Rare Diseases- Coordinating Center of Piemonte and Valle d’Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, University of Turin, Torino, Italy, ⁹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, Cordoba, Spain
Background/Purpose: The clinical significance of non-canonical anti-phosphatidylserine/prothrombin (aPS/PT) antibodies in antiphospholipid syndrome (APS) is still controversial. This study assessed the prevalence of aPS/PT antibodies, their association with…
Abstract Number: 737 • 2019 ACR/ARP Annual Meeting
The MUC5B Promoter Variant Does Not Predict Outcomes in Systemic Sclerosis-related Interstitial Lung Disease
Elizabeth Volkmann¹, Donald Tashkin ², Michael Roth ³, Ning Li ², Grace Kim ², Jonathan Goldin ², Maureen Mayes ⁴, Julio Charles ⁵, Philip Clements ², Daniel Furst ⁶, Dinesh Khanna ⁷, Robert Elashoff ² and Shervin Assassi ⁴, ¹University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, ²University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, ³University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, CA, ⁴Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, Texas, USA, Houston, TX, ⁵University of Texas, Houston, Houston, ⁶University of California, Los Angeles, CA, ⁷Department of Medicine, University of Michigan, Ann Arbor, Michigan, USA, Ann Arbor
Background/Purpose: Interstitial lung disease (ILD) affects the majority of patients with systemic sclerosis (SSc). The disease course of ILD varies among SSc patients and no…
Abstract Number: 1929 • 2019 ACR/ARP Annual Meeting
Identification and Validation of Transcriptional Genes Associated with Osteoporotic Vertebral Fractures by Microarray Study, in Community Elderly Women
Levi Jales Neto¹, Zofia Wicik ², Georgea Torres ¹, Liliam Takayama ¹, Neusa Lopes ¹, alexandre Pereira ¹ and Rosa Pereira ³, ¹University of Sao Paulo, Sao Paulo, Brazil, ²University of Sao Paulo, São Paulo, Brazil, ³Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Sao Paulo, Brazil
Background/Purpose: The pathogenesis of osteoporosis, a common disease with high morbidity1, comprises genetic and environmental factors2. Recent studies demonstrated that blood samples are a source…
Abstract Number: 917 • 2018 ACR/ARHP Annual Meeting
Type 1 Interferon Levels Correlates with Age of Diagnosis and Ethnicity in Systemic Lupus Erythematous
Majid Abedi¹, Lilian Borisov², Allison Doyle¹, Francisco Flores², June Fujimoto², Aviva Jacobs¹, Pramod Naranatt¹, Liuliu Pan², William Ricketts³, Jacob Spangler¹, Kristen Warren² and Robert Terbrueggen², ¹DxTerity, Rancho Domiquez, CA, ²DxTerity, Rancho Dominguez, CA, ³Clinical Operations, DxTerity, Rancho Domiquez, CA
Background/Purpose: Low cost, patient-administered, “from home” genomic tests for monitoring disease activity and therapy response could revolutionize treatment and management of Systemic Lupus Erythematous (SLE)…
Abstract Number: 1135 • 2018 ACR/ARHP Annual Meeting
Genome-Wide Meta-Analysis Identified Two Novel Variants Associated with Hallux Valgus
Liubov Arbeeva¹, Braxton Mitchell², Rebecca D. Jackson³, Michelle S. Yau⁴, Kathleen Ryan⁵, Yvonne M. Golightly⁶, Marian T. Hannan⁷, Amanda Nelson⁸, Joanne M. Jordan⁹ and Marc C. Hochberg², ¹TARC, University of North Carolina at Chapel Hill, Chapel Hill, NC, ²School of Medicine, University of Maryland, Baltimore, MD, ³Ohio State University, Columbus, OH, ⁴Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, ⁵University of Maryland, Baltimore, MD, ⁶Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, ⁷Institute for Aging Research, Hebrew SeniorLife & Harvard Medical School, Boston, MA, ⁸UNC School of Medicine, Chapel Hill, NC, ⁹Thurston Arthritis Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC
Background/Purpose: Hallux valgus (HV) is a common foot disorder that is highly heritable. A genome-wide association study (GWAS) conducted in 4,409 Caucasians from the Framingham…
Abstract Number: 1136 • 2018 ACR/ARHP Annual Meeting
Association of Mitochondrial DNA Haplotypes with Symptomatic Hand and Thumb Based Osteoarthritis and Hand OA Progression
Charles Eaton¹, Mary Roberts², Jeffrey B. Driban³, Ida Kristin Haugen⁴, Lena Franziska Schaefer⁵, Bing Lu⁶, Rebecca D. Jackson⁷, Marc C. Hochberg⁸, C. Kent Kwoh⁹, Francisco J Blanco¹⁰ and Timothy E. McAlindon¹¹, ¹Family Medicine and Epidemiology, Warren Alpert Medical School, School of Public Health, Brown University, Providence, RI, ²Center for Primary Care and Prevention, Memorial Hospital of Rhode Island, Pawtucket, RI, ³Rheumatology, Tufts Medical Center, BOSTON, MA, ⁴Diakonhjemmet Hospital, Oslo, Norway, ⁵Radiology, Brigham & Women's Hospital/ Harvard Medical School, Boston, MA, ⁶Division of Rheumatology, Immunology and Allergy, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, ⁷Ohio State University, Columbus, OH, ⁸School of Medicine, University of Maryland, Baltimore, MD, ⁹Medicine, Division of Rheumatology, University of Arizona School of Medicine, University of Arizona Arthritis Center, Tucson, AZ, ¹⁰Rheumatology Division, ProteoRed, PRB2-ISCIII. INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ¹¹Division of Rheumatology, Tufts Medical Center, Boston, MA
Background/Purpose: Hand osteoarthritis (OA) can be a painful, disabling condition, with an increased prevalence in women, the elderly, and has a strong genetic component (hereditability…
Abstract Number: 1292 • 2018 ACR/ARHP Annual Meeting
HLA-B*58:01 Genotype and the Risk of Allopurinol-Associated Severe Cutaneous Adverse Reactions in a Predominately Black or African American Population with Advanced Chronic Kidney Disease
Sarah Ford¹, Pamela Kimball¹, Gaurav Gupta¹ and Nehal Shah², ¹Virginia Commonwealth University, Richmond, VA, ²Medicine/Rheumatology, Virginia Commonwealth University, Richmond, VA
Background/Purpose: Allopurinol is the first line urate lowering drug used for treatment of gout. Its most feared side effect includes development of hypersensitivity drug reactions…
Abstract Number: 1975 • 2018 ACR/ARHP Annual Meeting
Behcet’s Disease Lies in the “B” Holder. New Associations in Disease Susceptibility and Manifestations
Mohanad Elfishawi^1,2, Sally Elfishawi³, Ghada Mossallam³, Paul Norman⁴, Jill Hollenbach⁵, Maneesh Misra⁵, Gonzalo Montero Martin⁶, Helma de Bruin⁷, Leos Van de Pasch⁷, Erik Rozemuller⁷, Marcelo Fernandiz-Vina⁶, Adriana Abrudescu⁸ and Khaled Zaky⁹, ¹Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, NY, ²Rheumatology, Kasr Alainy Hospital, Cairo University, Cairo, Egypt, ³Clinical pathology and Immunology laboatory, National Cancer Institute, Cairo University, Cairo, Egypt, ⁴Division of Personalized Medicine and Department of Immunology, University of Colorado School of Medicine, Denver, CO, ⁵Department of Neurology, University of California San Francisco, San Francisco, CA, ⁶Department of Pathology, Stanford University,School of medicine, Palo Alto, CA, ⁷GenDx, Utrecht, Netherlands, ⁸Internal Medicine and Rheumatology, Icahn School of Medicine at Mount Sinai, Queens Hospital center, NYC, NY, ⁹Rheumatology and Rehabilitation, Faculty of medicine, Al-Azhar University, Cairo, Egypt
Background/Purpose: Behçet’s disease is a multisystem disease affecting young adults with variable vessel vasculitis as its underlying pathology. Previous studies in Behçet’s disease linked it…
Abstract Number: 2119 • 2018 ACR/ARHP Annual Meeting
Association of the Variant Form of rs17408553 at Human Leukocyte Antigen-C Supports Evidence That Hypo-Responsive Natural Killer Cells Adversely Influence the Course of Nephritis
Robert M. Clancy¹, H. Michael Belmont¹, Peter M. Izmirly², Nicole Bornkamp³, Sarah Miller⁴, Matthew Poulin⁴, Liying Yan⁴, Jill P. Buyon¹ and Ellen M. Ginzler⁵, ¹NYU School of Medicine, New York, NY, ²Rheumatology, NYU School of Medicine, New York, NY, ³Medicine, NYU School of Medicine, New York, NY, ⁴EpigenDx, Hopkinton, MA, ⁵Rheumatology, SUNY Downstate Medical Center, Brooklyn, NY
Background/Purpose: In subjects with lupus nephritis (LN), tissue injury due to local immune activation involving persistently activated macrophages in the renal parenchyma is limited by…
Abstract Number: 2983 • 2018 ACR/ARHP Annual Meeting
The Changing Faces of Rheumatoid Arthritis Patients at Presentation: A 20-Year Study
Nathalie Carrier¹, Sophie Roux², Ariel Masetto², Artur J deBrum Fernandes³, Patrick Liang⁴, Meryem Maoui⁵ and Gilles Boire⁴, ¹Centre intégré universitaire de santé et de services sociaux de l'Estrie -Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada, ²Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ³Medicine, Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ⁴Rheumatology Division, Centre intégré universitaire de santé et de services sociaux de l'Estrie - Centre Hospitalier Universitaire de Sherbrooke and Universite de Sherbrooke, Sherbrooke, QC, Canada, ⁵Bristol-Myers Squibb Canada., St-Laurent, QC, Canada
Background/Purpose: To analyze the evolution of baseline demographic, clinical, serological and genetic characteristics of patients with incident RA over 20 years. Methods: Since July 1998,…
Abstract Number: 896 • 2018 ACR/ARHP Annual Meeting
Pharmacogenomics Study of Predicting Response of TNF Blocker and Medical Image Progression in Chinese Han Ankylosing Spondylitis Population
Jing Liu¹, Weilin Pu¹, Qi Zhu², He Fan¹, Wei Wan³, Hejian Zou⁴, Xiaodong Zhou⁵, John D. Reveille⁶, Dongyi He² and Jiucun Wang¹, ¹State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China, ²Institute of Arthritis Research, Shanghai Academy of Chinese Medical Sciences, Guanghua Integrative Medicine Hospital, Shanghai, China, ³Division of Rheumatology, Changhai Hospital, Shanghai, China, ⁴Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, China, ⁵Internal Medicine-Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, ⁶McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: TNF blockers, have been widely used in immune-mediated diseases and many genetic variations predicting treatment response have been described. We applied previously published genetic…
Abstract Number: 178 • 2017 ACR/ARHP Annual Meeting
Genome-Wide DNA Methylation Study in Lupus in an Admixed Mexican Population
Maria Teruel¹, Patrick Coit², Mikhail Dozmorov³, Mario Cardiel⁴, Ignacio Garcia-De La Torre⁵, Marco A Maradiaga-Ceceña Sr.⁶, José Francisco Moctezuma⁷, Maria Teresa Tusié-Luna⁸, Marta Alarcón-Riquelme^9,10 and Amr H Sawalha², ¹GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain, ²Division of Rheumatology, University of Michigan, Ann Arbor, MI, ³Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, ⁴Centro de Investigación Clínica de Morelia SC, Morelia, Mexico, ⁵Immunology & Rheumatology, Centro de Est. de Invest. Bas. y Clin., S.C., Guadalajara, JAL, Mexico, ⁶Hospital General de Culiacán, Culiacán, Mexico, ⁷Servicio de Reumatología, Hospital General de Mexico, Ciudad de Mexico, Mexico, ⁸Medicina Genómica y Toxicología Ambiental, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Mexico, ⁹Uppsala University, Uppsala, Sweden, ¹⁰Centro de Genomica e Investigación Oncológica, Pfizer-University of Granada-Junta de Andalucía, Granada, Spain
Background/Purpose: Our knowledge about the pivotal role DNA methylation plays in the pathogenesis of SLE has significantly increased in the last few years. However, we…
Abstract Number: 1016 • 2017 ACR/ARHP Annual Meeting
The Genetic Biomarkers to Predicting Response of TNF Inhibitors Treatment in Rheumatoid Arthritis
So-Young Bang¹, Youngho Park², Kwangwoo Kim³, Young Bin Joo⁴, Soo-Kyung Cho⁵, Chan-Bum Choi¹, Yoon-Kyoung Sung², Tae-Hwan Kim², Jae-Bum Jun¹, Dae-Hyun Yoo¹, Hye-Soon Lee⁶ and Sang-Cheol Bae⁷, ¹Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ²Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ³4Department of Biology, Kyung Hee University, Seoul, Korea, Republic of (South), ⁴Internal Medicine, Department of Rheumatology, St. Vincent's Hospital, The Catholic University of Korea, Suwon, Gyeonggido, Korea, Republic of (South), ⁵Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ⁶Hanyang University Guri Hospital, Gyeonggi-do, Korea, Republic of (South), ⁷Department of Rhematology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South)
Background/Purpose: Although pharmacogenetic studies of TNF inhibitors (TNFi) response presented the estimates of high heritability, only few loci with suggestive weak association as biomarkers for…
Abstract Number: 1028 • 2017 ACR/ARHP Annual Meeting
Association of a Non-Synonymous, Loss-of-Function, Variant in NOD2 with Reduced Tissue Damage in ACPA +Ve RA
Ricardo Segurado¹, Denis Shields¹, Rachel Knevel², Annette H.M. van der Helm-van Mil³, Tom W.J. Huizinga⁴ and Anthony G. Wilson⁵, ¹University College Dublin, Dublin, Ireland, ²Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, ³Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ⁴Department of Rheumatology, LUMC, Leiden, Netherlands, Leiden, Netherlands, ⁵UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland
Background/Purpose: The functional capacity of individuals with rheumatoid arthritis (RA) is related to the severity of damage to bone and cartilage within joints. This is…
Abstract Number: 1142 • 2017 ACR/ARHP Annual Meeting
A Case Control Study of Anakinra Use for Acute Gout in a VA Patient Cohort Reveals Association with East Asian Descent, High Urate Burden, and Increased Co-Morbidities and All-Cause Mortality
Ena Sharma¹ and Robert Terkeltaub², ¹Rheumatology, University Of California San Diego, San Diego, CA, ²Rheumatology, VA San Diego Healthcare System, San Diego, CA
Background/Purpose: Effectiveness of the IL-1 receptor antagonist anakinra, in resolving flares of acute gout, has been reported in several case series. Here, studying a VA…

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