Abstracts tagged "genetics"

Abstract Number: 1402 • 2015 ACR/ARHP Annual Meeting
Development of Systemic Juvenile Idiopathic Arthritis Manifestations Following Remission of Hemophagocytic Lymphohistiocytosis
Baruch Goldberg¹, Eyal Muscal², Marietta De Guzman³ and Carl Allen⁴, ¹Pediatric Rheumatology, Texas Children's Hospital, Houston, TX, ²Pediatric Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ³Pediatric Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ⁴Pediatric Hematology and Oncology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal pathologic inflammatory process resulting from impaired immune function due to inherited gene mutations or secondary to…
Abstract Number: 1632 • 2015 ACR/ARHP Annual Meeting
Do RA Susceptibility Loci Predict Response to Methotrexate As First DMARD in Early RA?
Thomas Frisell¹, Saedis Saevarsdottir^2,3 and Johan Askling^1,4, ¹Clinical Epidemiology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden, ²Rheumatology Unit, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ³Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ⁴Rheumatology Unit, Karolinska University Hospital, Stockholm, Sweden
Background/Purpose: Improved means to predict which RA patients will respond to methotrexate monotherapy, the preferred first line therapy in early RA, would allow patients to…
Abstract Number: 1929 • 2015 ACR/ARHP Annual Meeting
Somatic Mutations in Clonally Expanded Cytotoxic Lymphocytes in Patients with Newly Diagnosed Rheumatoid Arthritis
Paula Savola¹, Tiina Kelkka¹, Hanna Rajala¹, Antti Kuuliala², Krista Kuuliala², Samuli Eldfors³, Pekka Ellonen³, Sonja Lagstrom³, Rajiv Kumar Khajuria¹, Taina Jaatinen⁴, Riitta Koivuniemi⁵, Heikki Repo², Janna Saarela³, Kimmo Porkka¹, Marjatta Leirisalo-Repo⁶ and Satu Mustjoki¹, ¹Department of Hematology, Hematology Research Unit Helsinki, University of Helsinki, Comprehensive Cancer Center, Helsinki University Hospital, Helsinki, Finland, ²Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Helsinki, Finland, ³Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, ⁴Clinical Laboratory, Finnish Red Cross Blood Service, Helsinki, Finland, ⁵Department of Medicine, Division of Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ⁶Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Background/Purpose: In rheumatoid arthritis (RA), the mechanisms initiating immune dysregulation leading to joint damage are incompletely understood. Previous studies show that large CD8+ T cell…
Abstract Number: 2101 • 2015 ACR/ARHP Annual Meeting
HLA Associations in Mothers of Children with Cardiac Manifestations of Neonatal Lupus
Hannah C. Ainsworth¹, Carl D. Langefeld¹, Miranda C. Marion², Nathalie Costedoat-Chalumeau³, Antonio Brucato⁴, Jill P. Buyon⁵ and Robert M. Clancy⁵, ¹Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ²Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University Health Sciences, Winston-Salem, NC, ³Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁴Internal Medicine, Hospital Papa Giovanni XXIII, Bergamo, Italy, ⁵Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY
Background/Purpose: Cardiac manifestations of neonatal lupus, comprising atrioventricular conduction defects and cardiomyopathy, occur in fetuses exposed to anti-Ro/SSA antibodies, and carry substantial mortality. There is…
Abstract Number: 2702 • 2015 ACR/ARHP Annual Meeting
Immunophenotyping of Rheumatoid Arthritis Reveals the Linkage Between HLA-DRB1 Genotype, CXCR4 Expressions on Memory CD4+ T Cells, and Disease Activity
Yasuo Nagafuchi¹, Hirofumi Shoda¹, Shuji Sumitomo¹, Shinichiro Nakachi¹, Rika Kato², Yumi Tsuchida², Haruka Tsuchiya², Keiichi Sakurai², Norio Hanata², Shoko Tateishi², Hiroko Kanda², Keishi Fujio¹ and Kazuhiko Yamamoto¹, ¹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Background/Purpose: The HLA-DRB1 is the strongest genetic risk factor for rheumatoid arthritis (RA). Although this fact suggests a pivotal role for adaptive immunity in RA,…
Abstract Number: 2818 • 2015 ACR/ARHP Annual Meeting
Associations of IL23R, BMP6 and PTGS1 Polymorphisms with Radiographic Severity of Ankylosing Spondylitis
Gulsen Ozen¹, Rabia Deniz², Fatih Eren³, Can Erzik³, Ali Ugur Unal¹, Sibel Z. Aydin⁴, Nevsun Inanc¹, Haner Direskeneli¹ and Pamir Atagunduz¹, ¹Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, ²Marmara University Faculty of Medicine, Istanbul, Turkey, ³Department of Medical Biology, Marmara University Faculty of Medicine, Istanbul, Turkey, ⁴Department of Rheumatology, Koc University Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Ankylosing spondylitis (AS) is an inflammatory disease affecting spine which may lead to new bone formation and disability. However, the radiographic severity of AS…
Abstract Number: 2828 • 2015 ACR/ARHP Annual Meeting
Profiling Immunogenic Bacteria within the Microbiota of ZAP-70 Mutant SKG Mice Associated with Spondyloarthritis and Ileitis Using IgA-SEQ
Linda Rehaume¹, Alicia Kang¹, Olga Zbarskaya¹, Jane Mullaney¹, Matthew Kim¹, Paraic O Cuiv¹, Nicola Angel², Philip Hugenholtz², Mark Morrison¹ and Ranjeny Thomas¹, ¹Translational Research Institute, The University of Queensland Diamantina Institute, Brisbane, Australia, ²Australian Centre for Ecogenomics, The University of Queensland, Brisbane, Australia
Background/Purpose: IgA production is the main barrier mechanism of mucosal surfaces. High affinity IgA is generated through T cell-dependent mechanisms and preferentially binds to invasive…
Abstract Number: 2995 • 2015 ACR/ARHP Annual Meeting
Genome Wide Analysis in Scleroderma Renal Crisis: Defining Genetic Risk in Patients with RNA Polymerase III Auto-Antibodies
Maria C Fonseca¹, Sandra Guerra¹, Edward Stern^1,2, Svetlana I. Nihtyanova¹, David Abraham³, Aine Burns², Mark Harber² and Christopher P. Denton⁴, ¹Rheumatology, UCL Division of Medicine, London, United Kingdom, ²Nephrology, Royal Free Hospital, London, United Kingdom, ³Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, ⁴Rheumatology and Connective Tissue Diseases, University College London, London, United Kingdom
Background/Purpose: Scleroderma renal crisis (SRC) is a severe complication of systemic sclerosis (SSc). Most SSc cases demonstrate a disease-specific antinuclear antibody including anti-RNA polymerase III…
Abstract Number: 3001 • 2015 ACR/ARHP Annual Meeting
Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis
Angel CY Mak¹, Paul LF Tang², Clare Cleveland^3,4, M Kari Connolly⁵, Tamiko Katsumoto^3,4, Paul Wolters⁶, Pui-Yan Kwok^2,5 and Lindsey A. Criswell⁷, ¹Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, ²Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, ³Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, San Francisco, CA, ⁴Department of Medicine, University of California, San Francisco, San Francisco, CA, ⁵Department of Dermatology, University of California, San Francisco, San Francisco, CA, ⁶Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ⁷Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, University of California, San Francisco, San Francisco, CA
Background/Purpose: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies (GWAS) have identified a large number of gene regions…
Abstract Number: 2455 • 2014 ACR/ARHP Annual Meeting
IL-6 Proximal Promoter SNP rs18000795 Genotype Strongly Correlates with Synovial Fibroblast IL-6 Expression
Erika Noss¹, Sook Kyung Chang², Gerald Watts² and Michael Brenner², ¹Divison of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose Interleukin (IL)-6 is an important driver of rheumatoid arthritis (RA) pathology, and synovial fibroblasts are a major source of IL-6 in the RA synovium. …
Abstract Number: 82 • 2014 ACR/ARHP Annual Meeting
HLA-DPB1^*04:01 Confers Risk for PR3-ANCA Positive ANCA-Associated Vasculitis (AAV), but Protects Against MPO-ANCA Positive AAV, in a Japanese Population
Aya Kawasaki¹, Misaki Hidaka², Narumi Hasebe², Ken-ei Sada³, Shigeto Kobayashi⁴, Hidehiro Yamada⁵, Hiroshi Furukawa⁶, Kunihiro Yamagata⁷, Takayuki Sumida⁸, Nobuyuki Miyasaka⁹, Shigeto Tohma⁶, Shoichi Ozaki¹⁰, Seiichi Matsuo¹¹, Hiroshi Hashimoto¹², Hirofumi Makino³, Masayoshi Harigai¹³ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ³Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ⁴Department of Internal Medicine, Juntendo University Koshigaya Hospital, Tokyo, Japan, ⁵Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ⁶Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁷Department of Internal Medicine (Nephrology), Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁸Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁹Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan, ¹⁰Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ¹¹Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹²Juntendo University School of Medicine, Tokyo, Japan, ¹³Department of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose Epidemiologic difference between European and Asian populations is observed in antineutrophil cytoplasmic antibody (ANCA) – associated vasculitis (AAV). Granulomatosis with polyangiitis (GPA) is prevalent…
Abstract Number: 2089 • 2014 ACR/ARHP Annual Meeting
The APOL1 Gene Is Not Associated with Lupus Nephritis in Individuals with Enriched Amerindian Ancestry
Julio Molineros¹, Hannah Ainsworth², Robert Kimberly³, Michelle Petri⁴, Rosalind Ramsey-Goldman⁵, Luis M. Vilá⁶, John D. Reveille^7,8, Elizabeth E. Brown⁹, Swapan Nath¹, Carl D. Langfeld¹⁰, Bernardo Pons-Estel on behalf of GENLES¹¹, Graciela S. Alarcon¹² and Marta E. Alarcon Riquelme¹, ¹Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Wake Forest, Winston-Salem, NC, ³University of Alabama, Birmingham, AL, ⁴Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Rheumatology, Northwestern University and Feinberg School of Medicine, Chicago, IL, ⁶Department of Medicine, Division of Rheumatology, University of Puerto Rico Medical Sciences Campus, San Juan, PR, ⁷Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁸Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, ⁹University of Alabama at Birmingham, Birmingham, AL, ¹⁰Department of Biostatistics, Wake Forest University Health Sciences, Winston-Salem, NC, ¹¹Sanatorio Parque, Rosario, Argentina, ¹²Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL
The APOL1 Gene is not Associated with Lupus Nephritis in Individuals with Enriched Amerindian AncestryBackground/Purpose: The APOL1 gene coding variants G1 and G2 have been…
Abstract Number: 90 • 2014 ACR/ARHP Annual Meeting
Genetic Variants in IL-6, IL-10, C5-TRAF1 and FCRL3 and Progression of Joint Damage in Rheumatoid Arthritis; A Study on Six Cohorts
H.W. van Steenbergen¹, L. Rodriguez-Rodriguez², E. Berglin³, A. Zhernakova⁴, R. Knevel¹, J. Ivorra-Cortes⁵, T.W.J. Huizinga¹, B. Fernández-Gutiérrez⁶, P.K. Gregersen⁷, S. Rantapää-Dahlqvist⁸ and A.H.M. van der Helm-van Mil¹, ¹Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ²Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ³Rheumatology, Institution of Public health and clinical medicine/ Rheumatology, University of Umeå, Umeå, Sweden, ⁴Genetics, University Medical Center Groningen, Groningen, Netherlands, ⁵Rheumatology, University Hospital la Fe, Valencia, Spain, ⁶Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ⁷The Feinstein Institute for Medical Research, Manhasset, NY, ⁸Department of Public Health and Clinical Medicine/Rheumatology, Umeå University Hospital, Umeå, Sweden
Background/Purpose Understanding the mechanisms underlying the inter-individual differences in radiographic progression is relevant and heritability studies have shown that genetic factors explain part of these…
Abstract Number: 1861 • 2014 ACR/ARHP Annual Meeting
The Role of Macrophage Migration Inhibitory Factor (MIF) and MIF Gene Polymorphisms in the Pathogenesis of Granulomatosis with Polyangiitis
Antoine G. Sreih¹, Rana Ezzeddine², Juan Fan³, Lin Leng³, Simon Carette⁴, David Cuthbertson⁵, Gary S. Hoffman⁶, Nader A. Khalidi⁷, Carol A. Langford⁸, Carol McAlear⁹, Paul Monach¹⁰, Philip Seo¹¹, Ulrich Specks¹², Steven R. Ytterberg¹³, Peter A. Merkel¹⁴ and Richard Bucala¹⁵, ¹Medicine/Division of Rheumatology, The University of Pennsylvania, Philadelphia, PA, ²Biostatistics, Bristol-Myers Squibb, Wallingford, CT, ³Yale University, New Haven, CT, ⁴Division of Rheumatology, University of Toronto, Toronto, ON, Canada, ⁵Department of Biostatistics, University of South Florida, Tampa, FL, ⁶Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH, ⁷Division of Rheumatology, St. Joseph’s Hospital, McMaster University, Hamilton, ON, Canada, ⁸Center for Vasculitis Care and Research, Cleveland Clinic, Cleveland, OH, ⁹Division of Rheumatology, Vasculitis Center, University of Pennsylvania, Philadelphia, PA, ¹⁰Rheumatology, Boston University, Boston, MA, ¹¹Rheumatology Division, Johns Hopkins Vasculitis Center, Johns Hopkins University, Baltimore, MD, ¹²Frederichs Dr NW, Mayo Clinic, Rochester, MN, ¹³Division of Rheumatology, Mayo Clinic, Rochester, MN, ¹⁴Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ¹⁵Rheum/Dept of Int Med, Yale University School of Med, New Haven, CT
Background/Purpose: Macrophage Migration Inhibitory Factor (MIF) is an immunoregulatory cytokine that may play a central role in the pathogenesis of granulomatous diseases. Two functional polymorphisms…
Abstract Number: 1808 • 2014 ACR/ARHP Annual Meeting
Role of HLA-B*5801 Genetic Testing and a Safety Programme When Initiating Allopurinol Therapy for Chronic Gout Management: A Cost-Effectiveness Analysis
Di Dong¹, Wei Chuen Tan-Koi^2,3, Gim Gee Teng^4,5, Eric Finkelstein⁶ and Cynthia Sung^7,8, ¹Health Services and Systems Research Program, Duke-NUS Graduate Medical School, Singapore, Singapore, ²Vigilance & Compliance Branch, Health Sciences Authority, Singapore, Singapore, Singapore, ³Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore, ⁴Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore, ⁵Division of Rheumatology, University Medicine Cluster, National University Health System, Singapore, Singapore, ⁶Health Services and Systems Research Program, Duke-NUS Graduate Medical School, Singapore., Singapore, Singapore, ⁷Vigilance & Compliance Branch, Health Products Regulation Group, Health Sciences Authority, Singapore, Singapore, Singapore, ⁸Emerging Infectious Diseases Program, Duke-NUS Graduate Medical School, Singapore., Singapore, Singapore
Background/Purpose To conduct a cost-effectiveness analysis from a health system perspective of various strategies in managing chronic gout to mitigate risk of allopurinol-induced Stevens-Johnson Syndrome…

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