Abstracts tagged "genetics"

Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting
Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility
Hirotaka Matsuo¹, Toshihide Higashino¹, Tappei Takada², Hirofumi Nakaoka³, Yu Toyoda⁴, Blanka Stiburkova⁵, Hiroshi Nakashima⁶, Seiko Shimizu¹, Makoto Kawaguchi⁷, Akiyoshi Nakayama⁸, Yuka Aoki¹, Misaki Ishino¹, Yusuke Kawamura¹, Kenji Wakai⁹, Rieko Okada¹⁰, Tatsuo Hosoya¹¹, Kimiyoshi Ichida¹², Hiroshi Ooyama¹³, Hiroshi Suzuki², Ituro Inoue³, Tanya J. Major¹⁴, Tony R. Merriman¹⁴ and Nariyoshi Shinomiya¹, ¹Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, ²Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, ³Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan, ⁴Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine,, The University of Tokyo, Tokyo, Japan, ⁵Department of Pediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, First Faculty of Medicine, Prague, Czech Republic, ⁶Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan, ⁷National Defense Medical College, Tokorozawa, Japan, ⁸Dept Integrative Physiol, National Defense Medical College, Tokorozawa, Japan, ⁹Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹¹Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan, ¹²Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, ¹³Ryougoku East Gate Clinic, Tokyo, Japan, ¹⁴University of Otago, Dunedin, New Zealand
Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…
Abstract Number: 71 • 2018 ACR/ARHP Annual Meeting
Association of Shared Epitope and Poor Prognostic Factors in RA
Evo Alemao¹, Joshua Bryson¹, Christine K Iannaccone², Michelle Frits², Nancy A. Shadick³ and Michael Weinblatt², ¹Bristol-Myers Squibb, Princeton, NJ, ²Brigham and Women’s Hospital, Boston, MA, ³Brigham and Women's Hospital, Boston, MA
Background/Purpose: There is a strong genetic association between RA and human leukocyte antigen (HLA) regions, particularly HLA-DRB1 alleles with the shared epitope (SE). SE alleles…
Abstract Number: 2027 • 2018 ACR/ARHP Annual Meeting
Whole Exome Trio Sequencing Implicates DOCK2 in Juvenile Idiopathic Arthritis
Laura A McIntosh^1,2, Yoshinori Fukui³, Thomas A. Griffin⁴, Kenneth Kaufman^1,2,5, Jarek Meller^6,7, Sherry Thornton⁸, Halima Moncrieffe^1,2 and Susan D Thompson^1,2, ¹Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Department of Pediatrics, University of Cincinnati, Cincinnati, OH, ³Division of Immunogenetics, Department of Immunobiology and Neuroscience, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan, ⁴Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC, ⁵US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁶Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁷Department of Environmental Health, University of Cincinnati, Cincinnati, OH, ⁸Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood and has a strong genetic component to disease risk. Genome-wide association studies…
Abstract Number: 88 • 2018 ACR/ARHP Annual Meeting
Lymphocyte DNA Methylation As a Mediator of Genetic Risk in Rheumatoid Arthritis
Alex Clark^1,2, Nisha Nair³, Andrew Skelton^1,2, Amy Anderson^1,2, Nishanthi Thalayasingam^1,2, Najib Naamane^1,2, Julie Diboll^1,2, Jonathan Massey⁴, Stephen Eyre^3,4, Anne Barton^3,4, John Isaacs^1,2, Louise Reynard⁵ and Arthur Pratt^1,2, ¹Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom, ²NIHR, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ³Arthritis Research UK Centre for Genetics and Genomics and Centre for Epidemiology, University of Manchester, Manchester, United Kingdom, ⁴NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom, ⁵Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
Background/Purpose: Genome-wide association studies (GWAS) have to date identified over 100 genomic loci at which single nucleotide polymorphisms (SNPs) confer an increased risk of developing…
Abstract Number: 2238 • 2018 ACR/ARHP Annual Meeting
Non-Coding Urate-Associated Variants Function in a Conserved Lincrna Regulatory Domain That Alters MAF transcription
Megan Leask¹, Tony R. Merriman¹, Amy Dowdle¹, Hamish Salvesen¹, Ruth Topless¹, Tayaza Fadason², Wenhua Wei¹, William Schierding², Justin O'Sullivan² and Julia Horsfield¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Genome-wide association studies (GWAS) have revealed that the large majority of disease-associated single nucleotide polymorphisms (SNPs) are located in the non-coding regions of the…
Abstract Number: 107 • 2018 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants, Renal Histopathology, and Prognosis in African American SLE Nephritis Patients: A Cohort Study
Ashira Blazer¹, Ming Wu², Nancyanne Schmidt³, Alana Engelbrecht⁴, Feng-Xia Liang⁵, Robert M. Clancy⁶, Jill P. Buyon⁷ and H. Michael Belmont⁸, ¹Internal Medicine Division of Rheumatology, NYU School of Medicine, New York, NY, ²Department of Pathology, New York University, New York, NY, ³Internal Medicine, New York University School of Medicine, New York, NY, ⁴Rheumatology, NYU Langone Health, New York, NY, ⁵Office of Science and Research, New York University School of Medicine, New York, NY, ⁶Colton Center for Autoimmunity, New York University, New York, NY, ⁷Rheumatology, NYU School of Medicine, New York, NY, ⁸Division of Rheumatology, New York University, New York, NY
Background/Purpose: Apolipoprotein L1 (APOL1) risk variants (RV), G1 and G2, associate with CKD in African Americans (AA) and are evolutionarily preserved due to improved infectious…
Abstract Number: 2248 • 2018 ACR/ARHP Annual Meeting
Genetic Variants Identify Interleukin 37 As an Important Anti-Inflammatory Cytokine in Gout in Humans
Viola Klück¹, Rosanne C. van Deuren¹, Amara Shaukat², Maartje Cleophas¹, Tania O. Crisan³, Nicola Dalbeth⁴, Lisa K. Stamp⁵, Tim Jansen⁶, Matthijs Janssen⁶, Alexander Hoischen¹, Frank van de Veerdonk⁷, Mihai Netea¹, Charles Dinarello⁸, Elan Z. Eisenmesser⁹, Vassili Kalabokis¹⁰, Soohyun Kim¹¹, Tony R. Merriman¹² and Leo .A.B. Joosten¹, ¹Experimental Internal Medicine, Radboud Institute of Molecular Life Sciences, Nijmegen, Netherlands, ²University of Otago, Dunedin, New Zealand, ³Medical Genetics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania, ⁴Bone Rsch Grp/Dept of Med, University of Auckland, Auckland, New Zealand, ⁵Department of Medicine, University of Otago, Christchurch, New Zealand, ⁶VieCuri Medical Center, Venlo, Netherlands, ⁷Department of General Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, ⁸Department of Medicine, Division of Infectious Diseases, University of Colorado, Denver, CO, ⁹Department of Biochemistry and Molecular Genetics, University of Colorado Denver, Aurora, CO, ¹⁰R&D Systems, BioTechne, Inc., Minneapolis, MN, ¹¹Laboratory of Cytokine Immunology, Konkuk University, Seoul, Korea, Republic of (South), ¹²Department of Biochemistry, School of Medical Sciences, University of Otago, Dunedin, New Zealand
Background/Purpose: During a gout flare monosodium urate (MSU) crystals induce, in the presence of a secondary stimulus, acute joint inflammation characterized by the recruitment of…
Abstract Number: 215 • 2018 ACR/ARHP Annual Meeting
A Decade Earlier- Onset of Symptoms of RA in the Indian (Asian) Cohort Compared to Dutch Cohort: Based on Meteor, a Global Database
Arvind Chopra¹, Manjit Saluja², Sytske Anne Bergstra³, Toktam Kainifard⁴, Anuradha Venugopalan⁵ and Tom W.J. Huizinga³, ¹Center for Rheumatic Diseases, Pune, India, ²Rheumatology, Research Co-ordinator, Pune, India, ³Department of Rheumatology, LUMC, Leiden, Netherlands, ⁴Rheumatology, Consultant research and Dietitian, Tehran, Iran (Islamic Republic of), ⁵Rheumatology, R & D, Lab, Center for Rheumatic Diseases, Pune, India
Background/Purpose: Reported symptom onset and diagnosis debut in rheumatoid arthritis (RA) patients may be influenced by environmental factors, genetics and gene-environmental interactions, but also by…
Abstract Number: 2787 • 2018 ACR/ARHP Annual Meeting
−21 HLA-Class I Dimorphism Differentiates Psoriatic Arthritis (PsA) from Psoriasis without Psoriatic Arthritis (PsC)
Vinod Chandran¹, Quan Li², Rohan Machhar², Fatima Abji¹, Justine Y. Ye¹, Rajan Nair³, Philip Stuart³, Katerina Oikonomopoulou², James T. Elder⁴, Dafna D Gladman² and Proton Rahman⁵, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ³University of Michigan, Ann Arbor, MI, ⁴University of Michigan Medical School, Ann Arbor, MI, ⁵Rheumatology, St Claires Mercy Hospital, St Johns, NF, Canada
Background/Purpose: The association between human leukocyte antigen (HLA) class I alleles and psoriatic disease indicates a potential role for the innate immune system in disease…
Abstract Number: 565 • 2018 ACR/ARHP Annual Meeting
Genetic Polymorphism in Dihydrofolate Reductase Impacts Methotrexate Polyglutamation in Adult Rheumatoid Arthritis
Thierry Dervieux¹, Marie Grosjean², Chuang Jiang^3,4, Kelley Brady¹, Kjeld Schmiegelow², Joel Kremer⁵ and Jun Yang⁴, ¹Exagen Diagnostics, Inc., Vista, CA, ²University Hospital Rigshospitalet, Copenhagen, Denmark, ³Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China, ⁴Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN, ⁵Albany Medical College and The Center for Rheumatology, Albany, NY
Background/Purpose: Methotrexate (MTX) is anti-folate activated to MTX polyglutamates (MTXPGs). MTX metabolism includes multiple enzyme-mediated reactions and genetic polymorphisms in these genes are linked to…
Abstract Number: 871 • 2018 ACR/ARHP Annual Meeting
Estimates of Diet Quality Explain Less Variability in Serum Urate Levels Than Genetic Factors
Tanya J. Major¹, Ruth Topless¹, Nicola Dalbeth² and Tony R. Merriman¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Hyperuricaemia (elevated serum urate) is a central risk factor for gout, an acute inflammatory form of arthritis. The balance between the hepatic production of…
Abstract Number: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Yue Wang¹, Guoshuai Cai², Diana M. Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen D. Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁹, John Clarke¹⁰, Francesco Boin¹¹, Paul Wolters¹², Lorinda Chung¹³ and Michael L. Whitfield¹⁴, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁷Dermatology, Stanford University School of Medicine, Stanford, CA, ⁸Gastroenterology, Stanford University School of Medicine, Palo Alto, CA, ⁹Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁰Gastroenterology, Stanford University School of Medicine, Stanford, CA, ¹¹Rheumatology, University California, San Francisco, San Francisco, CA, ¹²Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹³Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…
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: 1271 • 2017 ACR/ARHP Annual Meeting
Associations between Systemic Lupus Susceptibility (SLE) Loci and Anti-Phospholipid Antibody (aPL) Positivity in Childhood-Onset SLE (cSLE)
Linda T Hiraki^1,2, France Gagnon³, Earl Silverman², Deborah M. Levy², Sima Abu Alsaoud⁴ and Karl Everett^1,3, ¹Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada, ²Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ³Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada, ⁴Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Genome-wide association studies have identified nearly 60 susceptibility loci for systemic lupus erythematosus (SLE). However, few studies have investigated their influence on specific disease…
Abstract Number: 1663 • 2017 ACR/ARHP Annual Meeting
De Novo Mutation in ΑCΑCΒ in Childhood Onset SLE Highlights a Novel Role As Modulator of Nucleic Acid Sensor-Driven Type I Interferon Responses
Isaac Harley¹, Hanna Schulz¹, John Cambier², Leah C. Kottyan³, John B. Harley⁴, V. Michael Holers⁵, Hermine I. Brunner⁶, Kristine Kuhn¹, Kevin D. Deane¹ and Kenneth Kaufman⁷, ¹Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ²Deparment of Immunology & Microbiology, University of Colorado School of Medicine, Aurora, CO, ³Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Medicine, Division of Rheumatology, University of Colorado Denver, Aurora, CO, ⁶Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Rare variants provide important opportunity for mechanistic insight as they carry substantial effect sizes and provide deep insight into disease etiopathogenesis. To date, several…

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