Abstracts tagged "genetics"

Abstract Number: 2837 • 2019 ACR/ARP Annual Meeting
Asymptomatic Monosodium Urate Crystal Deposition Associates with Increased Expression of Pro-Inflammatory Genes
Gabriela Sandoval-Plata¹, Kevin Morgan ², Tamar Guetta-Baranes ², Ana Valdes ³, Michael Doherty ⁴ and Abhishek Abhishek ⁵, ¹Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham / Academic Rheumatolog, School of Medicine, University of Nottingham, Nottingham, England, United Kingdom, ²Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham, Nottingham, England, United Kingdom, ³Academic Rheumatology, School of Medicine, University of Nottingham / Nottingham NIHR BRC, Nottingham UK, Nottingham, England, United Kingdom, ⁴Academic Rheumatology, Division of Rheumatology,School of Medicine, University of Nottingham, Nottingham, UKArthritis Research UK Pain Centre, Nottingham, UKNational Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham, UK, Nottingham, England, United Kingdom, ⁵Academic Rheumatology, School of Medicine, University of Nottingham,Nottingham,UK National Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham,UK, Nottingham, England, United Kingdom
Background/Purpose: Persistent hyperuricaemia is a prerequisite for gout. However, only 10% of people with hyperuricaemia develop symptomatic gout, whereas 25-35% have asymptomatic monosodium urate (MSU)…
Abstract Number: 1933 • 2019 ACR/ARP Annual Meeting
Tumorigenesis Related Gene Identification in Dermatomyositis Using Meta-Analysis
Jihad Aljabban¹, Saad Syed ², Sharjeel Syed ³, Kalyn Hoffman ⁴, Laith Hasan ⁵, Nikhil Adapa ¹, Zahir Allarakhia ⁶, Dexter Hadley ⁷, Mohamad Aljabban ⁸ and Wael Jarjour ⁹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, ³Stanford School of Medicine, Stanford, CA, ⁴The Ohio State University College of Medicine, Columbus, OH, ⁵Tulane School of Medicine, New Orleans, ⁶Ohio State University College of Medicine, Columbus, OH, ⁷Institute for Computational Health Sciences, San Francisco, ⁸Genesys Health Systems, Grand Blanc, MI, ⁹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease-causing inflammatory changes in the skin and skeletal muscles. DM is associated with carcinomas of the ovary,…
Abstract Number: 1934 • 2019 ACR/ARP Annual Meeting
Tripartite Motif (TRIM) Gene Family Expression in Dermatomyositis
Jihad Aljabban¹, Sharjeel Syed ², Saad Syed ³, Zarife Sahenk ⁴, Noah Weisleder ⁵, Kevin McElhanon ⁵, Kalyn Hoffman ⁶, Nikhil Adapa ¹, Zahir Allarakhia ⁷, Laith Hasan ⁸, Dexter Hadley ⁹, Mohamad Aljabban ¹⁰ and Wael Jarjour ¹¹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, CA, ³Stanford School of Medicine, Stanford, ⁴Department of Neurology, Research Institute at Nationwide Children’s Hospital, Columbus, OH, ⁵Dorothy M. Davis Heart and Lung Research Institute & Dept. of Physiology & Cell Biology, The Ohio State University Wexner Medical Center, Columbus, OH, ⁶The Ohio State University College of Medicine, Columbus, OH, ⁷Ohio State University College of Medicine, Columbus, OH, ⁸Tulane School of Medicine, New Orleans, ⁹Institute for Computational Health Sciences, San Francisco, ¹⁰Genesys Health Systems, Grand Blanc, MI, ¹¹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease causing inflammatory changes to the skin and skeletal muscles. TRIM family proteins are composed of approximately…
Abstract Number: 1935 • 2019 ACR/ARP Annual Meeting
Multi-Organ System Meta-Analytic Approach to Investigating Sarcoidosis
Jihad Aljabban¹, Saad Syed ², Sharjeel Syed ³, Nikhil Adapa ¹, Laith Hasan ⁴, Zahir Allarakhia ⁵, Dexter Hadley ⁶, Mohamad Aljabban ⁷ and Wael Jarjour ⁸, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, ³Stanford School of Medicine, Stanford, CA, ⁴Tulane School of Medicine, New Orleans, ⁵Ohio State University College of Medicine, Columbus, OH, ⁶Institute for Computational Health Sciences, San Francisco, ⁷Genesys Health Systems, Grand Blanc, MI, ⁸Ohio State College of Medicine, Columbus, OH
Background/Purpose: Sarcoidosis (SD) is a granulomatous inflammatory disease with a heterogenous presentation and no definite etiology. SD usually begins in the lungs, skin, or lymph…
Abstract Number: 1947 • 2019 ACR/ARP Annual Meeting
Integrating Genetic Risk Scores and Pre-Diagnostic Metabolomics to Infer Dysregulated Mechanisms in Rheumatoid Arthritis in Women
Su H. Chu¹, Jing Cui ², Jeffrey Sparks ², Bing Lu ², Clary Clish ³, Jessica Lasky-Su ¹, Elizabeth Karlson ² and Karen Costenbader ², ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Broad Institute of MIT and Harvard, Boston, MA
Background/Purpose: Rheumatoid arthritis genetic risk scores (RA-GRS) improve RA risk prediction, but the added predictive value over lifestyle risk factors is modest. Several human leukocyte…
Abstract Number: 1954 • 2019 ACR/ARP Annual Meeting
Association of Functional (GA)n Microsatellite Polymorphism in the FLI1 Gene with Susceptibility to Human Systemic Sclerosis
Aya Kawasaki¹, Keita Yamashita ², Takashi Matsushita ³, Hiroshi Furukawa ⁴, Yuya Kondo ⁵, Naoko Okiyama ⁶, Shouhei Nagaoka ⁷, Kota Shimada ⁸, Shoji Sugii ⁹, Masao Katayama ¹⁰, Shunsei Hirohata ¹¹, Akira Okamoto ¹², Noriyuki Chiba ¹³, Eiichi Suematsu ¹⁴, Keigo Setoguchi ¹⁵, Kiyoshi Migita ¹⁶, Takayuki Sumida ⁵, Shigeto Tohma ¹⁷, Minoru Hasegawa ¹⁸, Yasuhito Hamaguchi ³, Shinichi Sato ¹⁹, Yasushi Kawaguchi ²⁰, Kazuhiko Takehara ³ and Naoyuki Tsuchiya ¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Doctoral Program in Biomedical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan, ³Department of Dermatology, Kanazawa University, Kanazawa, Japan, ⁴Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan, ⁵Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁷Yokohama Minami Kyousai Hospital, Yokohama, Kanagawa, Japan, ⁸Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, ⁹Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, Japan, ¹⁰National Hospital Organization Nagoya Medical Center, Nagoya, Japan, ¹¹Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Tatsuno, Japan, ¹²National Hospital Organization HImeji Medical Center, Himeji, Hyogo, Japan, ¹³National Hospital Organization Morioka Medical Center, Morioka, Iwate, Japan, ¹⁴National Hospital Organization Kyushu Medical Center, Fukuoka, Japan, ¹⁵Tokyo Metropolitan Cancer and Infectious Dease Center Komagome Hospital, Tokyo, Tokyo, Japan, ¹⁶Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan, ¹⁷National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ¹⁸Department of Dermatology, Fukui University, Fukui, ¹⁹University of Tokyo Graduate School of Medicine, Department of Dermatology, Tokyo, Japan, ²⁰Department of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan
Background/Purpose: Susceptibility genes which can account for the characteristic features of systemic sclerosis (SSc) such as fibrosis, vasculopathy and autoimmunity remain to be determined. A…
Abstract Number: 1959 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Systemic Lupus Erythematosus (SLE) Risk Alleles: Association with Increased Risk for Type 1 Diabetes (T1D) Complications Through a PTPN22 Polymorphism
Vivian Kawai¹, Mingjian Shi ¹, Qiping Feng ², Cecilia Chung ¹, Ge Liu ², Nancy Cox ², Dan Roden ², C. Michael Stein ¹ and Jonathan Mosley ², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University Medical Center, Nashville
Background/Purpose: Patients with SLE have increased risk of cardiovascular events and a higher prevalence of metabolic conditions compared to the general population. Inflammation is a…
Abstract Number: 1960 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Genetic Predisposition to Rheumatoid Arthritis Increases the Risk for Autoimmune Disease
Vivian Kawai¹, Mingjian Shi ¹, Qiping Feng ², Cecilia Chung ¹, Ge Liu ², Nancy Cox ², Dan Roden ², C. Michael Stein ¹ and Jonathan Mosley ², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University Medical Center, Nashville
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is associated with increased risk of cardiovascular disease, cardiometabolic disorders, and autoimmune disease. Thus, we…
Abstract Number: 2021 • 2019 ACR/ARP Annual Meeting
Higher Genetic Risk Load in Patients with More Diverse Manifestations in a Korean Systemic Lupus Erythematosus Cohort
So-Young Bang¹, Eunji Ha ², Hyuk-Hee Kwon ³, Hyun-Seung Yoo ⁴, Juyeon Kang ¹, Ji-Soong Kim ¹, Bora Nam ¹, Jung-Min Shin ¹, Yeon-Kyung Lee ¹, Tae-Han Lee ⁵, Hye-Soon Lee ⁶, Kwangwoo Kim ² and Sang-Cheol Bae ¹, ¹Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea, ²Kyung Hee University, Seoul, Republic of Korea, ³Hanyang University Hospital, Guri, ⁴Hanyang University Hospital, Guri, Republic of Korea, ⁵Hanyang University, Seoul, ⁶Department of Internal Medicine, Hanyang University Guri Hospital,Hanyang University School of Medicine, Guri, Korea, Guri, Republic of Korea
Background/Purpose: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with diverse heterogeneous phenotypes. Although many studies of SLE presented estimates of high heritability, impact…
Abstract Number: 1965 • 2018 ACR/ARHP Annual Meeting
Association of HLA Class II Alleles with Relapse and Interstitial Lung Disease in Myeloperoxidsae (MPO) -ANCA Positive Vasculitis in a Japanese Population
Aya Kawasaki¹, Ken-ei Sada², Fumio Hirano^3,4, Shigeto Kobayashi⁵, Hidehiro Yamada⁶, Hiroshi Furukawa^1,7, Kenji Nagasaka⁸, Takahiko Sugihara⁹, Kunihiro Yamagata¹⁰, Takayuki Sumida¹¹, Shigeto Tohma^12,13, Shoichi Ozaki⁶, Hiroshi Hashimoto¹⁴, Hirofumi Makino¹⁵, Yoshihiro Arimura¹⁶, Masayoshi Harigai¹⁷ and Naoyuki Tsuchiya¹, ¹University of Tsukuba, Faculty of Medicine, Molecular and Genetic Epidemiology Laboratory, Tsukuba, Japan, ²Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ³Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences, Department of Rheumatology, Tokyo, Japan, ⁴Tokyo Medical and Dental UniversityGraduate School of Medical and Dental Sciences, Department of Lifetime Clinical Immunology, Tokyo, Japan, ⁵Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, ⁶St. Marianna University, School of Medicine, Department of Internal Medicine, Kawasaki, Japan, ⁷National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Sagamihara, Japan, ⁸Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, ⁹Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, ¹⁰University of Tsukuba, Faculty of Medicine, Department of Nephrology, Tsukuba, Japan, ¹¹Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ¹²National Hospital Organization Tokyo Hospital, Sagamihara, Japan, ¹³National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ¹⁴Juntendo University School of Medicine, Tokyo, Japan, ¹⁵Okayama University Hospital, Okayama, Japan, ¹⁶Kyorin University School of Medicine, First Department of Internal Medicine, Tokyo, Japan, ¹⁷Tokyo Women's Medical University, Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo, Japan
Background/Purpose: The high prevalence of microscopic polyangiitis (MPA) and myeloperoxidase (MPO)-ANCA positive patients as well as frequent occurrence of interstitial lung disease (ILD) constitute unique…
Abstract Number: 1976 • 2018 ACR/ARHP Annual Meeting
Sequencing of the MHC Region Defines HLA-DQA1 As Driven Risk for Anti-Citrullinated Protein Antibodies (ACPA)-Positive Rheumatoid Arthritis in Han Population
Jianping Guo¹, Tao Zhang², Hongzhi Cao², Xiaowei Li², Mengru Liu¹, Yundong Zou¹ and Zhan-Guo Li¹, ¹Department of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China, ²Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen, China
Background/Purpose: The strong genetic contribution of the major histocompatibility complex (MHC) to rheumatoid arthritis (RA) susceptibility has been generally attributed to HLA-DRB1. However, due to…
Abstract Number: 1977 • 2018 ACR/ARHP Annual Meeting
Transcriptional Perturbation of RA-Risk Enhancer By CRISPR-DEADCAS9 Regulates LONG Range GENE Targets
Kate Duffus¹, Maria Imran², Gisela Orozco³, Helen Ray-Jones², Antony Adamson² and Stephen Eyre⁴, ¹Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ²University of Manchester, Manchester, United Kingdom, ³Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁴NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
Background/Purpose: Findings from genome wide association studies in complex diseases indicate over 90% of genetic variants associated with risk of developing disease are found outside…
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…

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