Abstracts tagged "genetics"

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: 2740 • 2019 ACR/ARP Annual Meeting
Takayasu Arteritis Associated Risk Locus in IL6 Represses the Anti-inflammatory Gene GPNMB Through Chromatin Looping and Recruiting MEF2-HDAC Complex
Xiufang Kong ¹ and Amr Sawalha², ¹University of Michigan & Fudan University, Ann Arbor, MI, ²University of Pittsburgh & University of Michigan, Pittsburgh, PA
Background/Purpose: Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within IL6 (rs2069837 A/G). The…
Abstract Number: 2836 • 2019 ACR/ARP Annual Meeting
Do Serum Urate-associated Genetic Variants Differentially Contribute to Gout Risk According to Body Mass Index? Analysis of the UK Biobank
Vicky Tai¹, Ravi Narang ¹, Greg Gamble ¹, Lisa Stamp ², Tony Merriman ³ and Nicola Dalbeth ¹, ¹University of Auckland, Auckland, New Zealand, ²University of Otago, Christchurch, Christchurch, Canterbury, New Zealand, ³University of Otago, Birmingham, AL
Background/Purpose: Both serum urate-associated genetic variants and body mass index (BMI) are associated with gout risk. The aim of this study was to systematically examine…
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: 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…

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