Abstracts tagged "genetics"

Abstract Number: 2673 • 2014 ACR/ARHP Annual Meeting
High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants
Fabiana Farias¹, Maria Wilbe², Johanna Dahlqvist¹, Dag Leonard³, Sergey Kozyrev¹, Gerli Pielberg¹, Maija-Leena Eloranta³, Lars Rönnblom³ and Kerstin Lindblad-Toh^1,4, ¹Department of Medical Biochemistry and Microbiology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ²Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ³Department of Medical Sciences, SciLife Lab, Rheumatology, Uppsala University, Uppsala, Sweden, Uppsala, Sweden, ⁴Broad Institute, Cambridge, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease, believed to arise from environmental triggering events in genetically predisposed individuals. To date, more than…
Abstract Number: 85 • 2014 ACR/ARHP Annual Meeting
Protective Association of HLA-DRB1*13:02 Against MPO-ANCA Positive ANCA-Associated Vasculitis in a Japanese Population
Naoyuki Tsuchiya¹, Narumi Hasebe¹, Ken-ei Sada², Shigeto Kobayashi³, Hidehiro Yamada⁴, Hiroshi Furukawa⁵, Kunihiro Yamagata⁶, Takayuki Sumida⁷, Nobuyuki Miyasaka⁸, Seiichi Matsuo⁹, Shigeto Tohma⁵, Shoichi Ozaki¹⁰, Hiroshi Hashimoto¹¹, Hirofumi Makino², Masayoshi Harigai¹² and Aya Kawasaki¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ³Department of Internal Medicine, Juntendo University Koshigaya Hospital, Tokyo, Japan, ⁴Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ⁵Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁶Department of Internal Medicine (Nephrology), Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁷Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁸Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan, ⁹Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, ¹¹Juntendo University School of Medicine, Tokyo, Japan, ¹²Department of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose Epidemiology of antineutrophil cytoplasmic antibody (ANCA) – associated vasculitis (AAV) is substantially different between European and Asian populations. In the Japanese population, the majority…
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…
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.…
Abstract Number: 926 • 2014 ACR/ARHP Annual Meeting
Does a Family History of Total Knee Replacement for Knee Osteoarthritis Influence Knee Pain and Structural Progression? a Prospective Longitudinal Cohort Study
Feng Pan¹, Hussain Khan¹, Changhai Ding¹, Tania Winzenberg², Johanne Martel-Pelletier³, Jean-Pierre Pelletier³, Flavia Cicuttini⁴ and Graeme Jones¹, ¹Musculoskeletal Unit, Menzies Research Institute Tasmania, University of Tasmania, Hobart,7000, Australia, ²Menzies Research Institute Tasmania, University of Tasmania, Hobart,7000, Australia, ³Osteoarthritis Research Unit, University of Montreal Hospital Research Centre (CRCHUM), Notre-Dame Hospital, Montreal, QC, Canada, ⁴Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia
Background/Purpose: Genetic factors appear to play an important role in the pathogenesis of both knee pain and radiographic osteoarthritis (OA) based on cross-sectional studies but…

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