Abstracts tagged "genetics"

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: 3225 • 2015 ACR/ARHP Annual Meeting
Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet’s Disease
Mikhail Ognenovski¹, Paul Renauer¹, Ina Koetter², Joerg C. Henes³, Bruno Casali⁴, Carlo Salvarani⁵, Haner Direskeneli⁶, Kenneth M. Kaufman⁷ and Amr H. Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Internal Medicine IV Rheumatology, Asklepios Klinik Altona, Hamburg, Germany, ³Department of Internal Medicine II, Rheumatology Division, University Hospital Tuebingen, Tuebingen, Germany, ⁴Divisione di Biologia Molecolare, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy, ⁵Rheumatology, Arcispedale S.Maria Nuova, Reggio Emilia, Italy, ⁶Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, ⁷Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Behcet’s disease (BD) is a systemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other organ complications such as…
Abstract Number: 3227 • 2015 ACR/ARHP Annual Meeting
Identification of Novel Protein-Coding Genetic Variants Associated with Takayasu Arteritis
Paul Renauer¹, Patrick Coit¹, Peter A. Merkel² and Amr H. Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA
Background/Purpose: Takayasu arteritis is a rare large vessel vasculitis of unclear etiology. Previous studies identified associations between Takayasu arteritis and genetic variants within HLA class…
Abstract Number: 93 • 2015 ACR/ARHP Annual Meeting
An HLA-C Amino Acid Variant in Addition to HLA-B*27 Confers Risk for Ankylosing Spondylitis in the Korean Population
Kwangwoo Kim¹, So-Young Bang², Seunghun Lee³, Hye-Soon Lee², Seung-Cheol Shim⁴, Young Mo Kang⁵, Chang-Hee Suh⁶, Celi Sun⁷, Swapan Nath⁷, Sang-Cheol Bae² and Tae-Hwan Kim², ¹Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ²Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ³Department of Radiology, Hanyang University College of Medicine, Seoul Hospital, Seoul, South Korea, ⁴Division of Rheumatology, Daejeon Rheumatoid and Degenerative Arthritis Center, Chungnam National University, Daejeon, South Korea, ⁵Dept of Internal Medicine, Kyungpook National University School of Medicine, Daegu, South Korea, ⁶Allergy-Rheumatology, Ajou University School of Medicine, Suwon, South Korea, ⁷Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Ankylosing spondylitis (AS) is a highly heritable rheumatic disease causing chronic inflammation of axial spine, joints and various organs. The presence of HLA-B*27 is…
Abstract Number: 3248 • 2015 ACR/ARHP Annual Meeting
Which Factors Explain Multi-Site Pain Caused By Obesity: A 5-Year Follow-up Study in Older Adults?
Feng Pan¹, Laura Laslett², Russell Thomson², Tania Winzenberg³, Flavia Cicuttini⁴, Changhai Ding⁵ and Graeme Jones⁵, ¹Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, ²Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, ³Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, ⁴Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia, ⁵Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia
Background/Purpose: Joint pain is common in older adults; typically multiple joints are involved. Obesity is an important risk factor in pathogenesis of multi-site joint pain…
Abstract Number: 99 • 2015 ACR/ARHP Annual Meeting
Personalised Genetic Medicine: HLA-DRB1 Amino Acid Positions 11, 71 and 74 Predict Inflammation Level, Disease Activity and Disability in Rheumatoid Arthritis
Stephanie Ling¹, Sebastien Viatte², Mark Lunt³, Alper van Sijl⁴, Lucía Silva Fernández^4,5, Soumya Raychaudhuri^2,6,7, Deborah P.M. Symmons^4,8, Adam Young^9,10, Alex J Macgregor¹¹ and Anne Barton¹², ¹Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Mancheser Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ³Manchester Academic Health Sciences Centre, Arthritis Research UK Centre for Epidemiology, The University of Manchester, Manchester, United Kingdom, ⁴Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ⁵Rheumatology, Complexo Hospitalario Universitario de Ferrol, Ferrol, Spain, ⁶Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁷Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, ⁸Centre for Musculoskeletal Research, University of Manchester, Arthritis Research UK Centre for Epidemiology, Manchester, United Kingdom, ⁹Rheumatology, ERAS, St Albans City Hospital, St Albans, United Kingdom, ¹⁰School of Life & Medical Sciences, University of Hertfordshire, Hatfield, United Kingdom, ¹¹School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, United Kingdom, ¹²Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom
Background/Purpose: Amino acid (AA) positions 11, 71 and 74 inside HLA-DRB1 confer susceptibility to rheumatoid arthritis (RA). AAs from these positions form 16 haplotypes, hierarchically…
Abstract Number: 1219 • 2014 ACR/ARHP Annual Meeting
Lack of Gene-Diuretic Interactions on Risk of Incident Gout: The Nurses’ Health Study and Health Professionals Follow-up Study
Ying Bao¹, Tony R. Merriman², Gary Curhan³, Eli A. Stahl⁴, David B. Mount⁵, Robert M. Plenge⁶, Peter Kraft⁷ and Hyon K. Choi⁸, ¹Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, ²Department of Biochemistry, University of Otago, Dunedin, New Zealand, ³German Research Center for Environmental Health, Harvard Medical School, Boston, MA, ⁴Mt Sinai School of Medicine, New York City, NY, ⁵Renal Division, Brigham and Women's Hospital, Boston, MA, ⁶Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women's Hospital, Boston, MA, ⁷Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, ⁸Boston University School of Medicine, Boston, MA
Background/Purpose: Diuretics, particularly thiazide and loop diuretics, increase the risk of gout, likely through urate transporters (e.g., OAT4) and volume depletion promoting urate reabsorption. As…
Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting
Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter
David B. Mount^1,2, Tony R. Merriman³, Eli A. Stahl⁴, Hyon K. Choi⁵ and Asim Mandal¹, ¹Renal Division, Brigham and Women's Hospital, Boston, MA, ²Renal Division, VA Boston Healthcare System, Boston, MA, ³Department of Biochemistry, University of Otago, Dunedin, New Zealand, ⁴Mt Sinai School of Medicine, New York City, NY, ⁵Boston University School of Medicine, Boston, MA
Background/Purpose: Variation in SLC2A9, which encodes the urate transporter GLUT9, is the major single genetic determinant of serum uric acid (SUA); however, the causal variant(s)…
Abstract Number: 1134 • 2014 ACR/ARHP Annual Meeting
Role of NOD2 Pathway in Sarcoidosis Cases with Characteristics of Blau Syndrome
Gerard Dumancas¹, Indra Adrianto², Albert M. Levin³, Michael C. Iannuzzi⁴, Benjamin A. Rybicki³ and Courtney Montgomery⁵, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²825 Ne 13th St. Ms 57, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, ⁴Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, ⁵Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad symptoms of symmetric arthritis, dermatitis, and granulomatous recurrent uveitis,…
Abstract Number: 1133 • 2014 ACR/ARHP Annual Meeting
Genetic Variants Influencing Joint Damage in Mexican Americans and European Americans with Rheumatoid Arthritis
Rector Arya¹, del Rincon Inmaculada², Vidya S Farook³, Jose Felix Restrepo⁴, Deidre A Winnier⁵, Marcel J Fourcaudot², Daniel Battafarano⁶, Satish Kumar⁷, Marcio AA de Almeida³, Joanne E Curran⁷, Christopher P Jenkinson⁵, John Blangero³, Ravindranath Duggirala⁷ and Agustin Escalante^4,8,9, ¹Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, ²Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX, ³Genetics, Texas Biomedical Research Institute, San Antonio, TX, ⁴Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁵University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁶Rheumatology, San Antonio Military Medical Center, JBSA - Ft Sam Houston, TX, ⁷Texas Biomedical Research Institute, San Antonio, TX, ⁸Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX, ⁹Dept. of Medicine-Rheumatology, University of Texas Health Science Center at San Antonio, San Antonio, TX
Background/Purpose: Joint damage in rheumatoid arthritis (RA) has been shown to be heritable, but knowledge on specific genetic determinants of joint damage in RA is…
Abstract Number: 1131 • 2014 ACR/ARHP Annual Meeting
Identification of Genetic Variants Associated with Response to Adalimumab Plus Methotrexate in Patients with Early Rheumatoid Arthritis
Alla Skapenko¹, Hendrik Schulze-Koops¹, Viswanath Devanarayan², Kenneth Idler³, Feng Hong⁴, Josef Smolen⁵, Arthur Kavanaugh⁶, Hartmut Kupper⁷ and Jeffrey F. Waring³, ¹Division of Rheumatology and Clinical Immunology, University of Munich, Munich, Germany, ²AbbVie Bioresearch Center, Worcester, MA, ³AbbVie Inc., North Chicago, IL, ⁴AbbVie Bioresearch Center, Worchester, MA, ⁵Medical University of Vienna and Hietzing Hospital, Vienna, Austria, ⁶University of California San Diego, La Jolla, CA, ⁷AbbVie Deutschland GmbH & Co. KG, Ludwigshafen, Germany
Background/Purpose: For patients with rheumatoid arthritis (RA) who fail to attain remission or low disease activity after 6 months of methotrexate (MTX) treatment, TNF inhibitors…
Abstract Number: 2958 • 2014 ACR/ARHP Annual Meeting
Polygenic Analysis of Transport, Metabolism and Immune Related Genomic Compartments in Serum Urate and Gout
Eli A. Stahl¹, Tony R. Merriman², Amanda Dobbyn³, David B. Mount⁴, Peter Kraft⁵ and Hyon K. Choi⁶, ¹Mt Sinai School of Medicine, New York City, NY, ²Department of Biochemistry, University of Otago, Dunedin, New Zealand, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴Renal Division, Brigham and Women's Hospital, Boston, MA, ⁵Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, ⁶Division of Rheumatology, Allergy, and Immunology Massachusetts General Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Genome wide association studies (GWAS) have identified loci associated with complex traits, and the current challenge is to glean biological insights from these findings.…

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