ACR Meeting Abstracts

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Abstracts tagged "polymorphism and systemic lupus erythematosus (SLE)"

  • Abstract Number: 754 • 2015 ACR/ARHP Annual Meeting

    Glutathione S Transferases (GST) Polymorphisms Are Independents Predictors of Efficacy and Toxicity in Lupus Nephritis Treated with Cyclophosphamide

    Alexandra Audemard-Verger1, Nicolas Martin Silva2, Céline Verstuyft3, Nathalie Costedoat-Chalumeau4, Aurélie Hummel5, Véronique Le Guern4, Karim Sacre6, Olivier Meyer7, Eric Daugas8, Cecile Goujard9, Audrey Sultan2, Thierry Lobbedez2, Lionel Galicier10, Jacques Pourrat11, Claire Le Hello2, Michel Godin12, Remy Morello2, Marc Lambert13, Eric Hachulla13, Philippe Vanhille14, Guillaume Queffeulou15, Jacques Potier15, Jean Jacques Dion16, P Bataille17, Dominique Chauveau18, Guillaume Moulis19, Dominique Farge20, Pierre Duhaut21, Bernadette Saint Marcoux22, Alban Deroux23, Jennifer Manuzak24, Camille Francès25, Olivier Aumaître26, Holy Bezanahary27, Laurent Becquemont28 and Boris Bienvenu29, 1Internal Medicine, CHU Caen, caen, France, 2CHU Caen, caen, France, 3Pharmacology, Hopital Bicêtre, Le Kremlin Bicêtre, France, 4Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, 5Necker, paris, France, 6Internal Medicine, Hospital Bichat, Paris, France, 7Rheumatology, Hopital Bichat, Paris, France, 8Internal Medicine, AP-HP Hôpital Bîchat, Paris, France, 9Bichat, Paris, France, 10Clinical Immunology, St Louis Hospital, Paris, France, 11Nephrology, Rangeuil Hospital, Paris, France, 12CHU Rouen, Rouen, France, 13CHU Lille, Lille, France, 14Department of Nephrology and Internal Medicine, Hospital of Valenciennes, Valenciennes, France, Valenciennes, Valenciennes, France, 15Ch Cherbourg, Cherbourg, France, 16Ch Charleville Mezeiere, Charleville Mezeiere, France, 17Ch Boulogne sur Mer, Boulogne sur Mer, France, 18CH Toulouse, Toulouse, France, 19CHU Purpan, Toulouse, France, 20Internal Medicine, Hopital St Louis, Paris, France, 21Department of Internal Medicine and RECIF, CHU Amiens, Amiens, France, 22CH Aulnay sous Bois, Aulnay sous Bois, France, 23Internal Medicine, CHU Grenoble, Grenoble, France, 24Institut Cochin, Paris, France, 25Dermatology Service, Tenon Hospital, Paris, France, 26Department of Internal Medicine 2. Referal center for SLE/APS, CHU Pitié-Salpêtrière, Paris, France, 27Internal Medicine, University Hospital of Limoges, Limoges, France, 28KB, Paris, France, 29Internal Medicine, Hospital Caen, Caen, France

    Background/Purpose: Cyclophosphamide (CYC) is effective in inducing remission of lupus nephritis (LN). CYC, as a pro-drug, requires bioactivation through multiple hepatic cytochrome P450s and glutathione…
  • Abstract Number: 2684 • 2014 ACR/ARHP Annual Meeting

    Association of Adam33 Polymorphisms with Systemic Lupus Erythematosus

    Seong-Wook Kang1, Seung-Taek Song1, Su-Jin Yoo2, Mi-Kyoung Lim3, Dong-Hyuk Sheen4, In-Seol Yoo5, Jinhyun Kim1 and Seung-Cheol Shim1, 1Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, South Korea, 2Rheumatology, Chungnam National University School of Medicine, Daejeon, South Korea, 3Rheumatology, Eulji University Hospital, Daejeon, South Korea, 4Department of Internal Medicine, Eulji University Hospital, Daejeon, South Korea, 5Departmen of Internal medicine, Chungnam National University School of Medicine, Daejeon, South Korea

    Background/Purpose A Disintegrin and Metalloprotease 33 (ADAM33) is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease…
  • 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-Toh1,4, 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: 87 • 2014 ACR/ARHP Annual Meeting

    Association of TRIM21 (RO52) Polymorphisms with Systemic Lupus Erythematosus in a Japanese Population

    Misaki Hidaka1, Aya Kawasaki1, Hiroshi Furukawa2, Yuya Kondo3, Satoshi Ito4, Isao Matsumoto5, Makio Kusaoi6, Hirofumi Amano6, Akiko Suda7, Keigo Setoguchi8, Tatsuo Nagai9, Kota Shimada10, Shoji Sugii10, Akira Okamoto11, Noriyuki Chiba12, Eiichi Suematsu13, Masao Katayama14, Akiko Okamoto15, Hajime Kono15, Shigeru Ohno7, Shunsei Hirohata16, Shouhei Nagaoka17, Yoshinari Takasaki18, Hiroshi Hashimoto19, Shigeto Tohma2, Takayuki Sumida3 and Naoyuki Tsuchiya1, 1Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 2Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, 3Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 4Department of Rheumatology, Niigata Rheumatic Center, Shibata, Japan, 5Department of Interenal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 6Department of Rheumatology and Internal Medicine, Juntendo University, Tokyo, Japan, 7Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, 8Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, 9Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, 10Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, 11Department of Rheumatology,, Himeji Medical Center, National Hospital Organization, Himeji, Japan, 12Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, 13Department of Internal Medicine and Rheumatology, Clinical Research Institute, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, 14Division of Rheumatology, Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya City, Aichi, Japan, 15Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, 16Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, 17Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, 18Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, 19Juntendo University School of Medicine, Tokyo, Japan

    Background/Purpose TRIM21, also referred to as Ro52 or SS-A1, belongs to the tripartite motif-containing (TRIM) family. TRIM21 is not only important as an autoantigen, but…
  • Abstract Number: 167 • 2013 ACR/ARHP Annual Meeting

    Association Of Functional Polymorphisms In IRF2 With Systemic Lupus Erythematosus In a Japanese Population

    Aya Kawasaki1, Hiroshi Furukawa2, Nao Nishida3, Eiji Warabi4, Yuya Kondo5, Satoshi Ito6, Isao Matsumoto7, Makio Kusaoi8, Akiko Suda9, Shouhei Nagaoka10, Keigo Setoguchi11, Tatsuo Nagai12, Shunsei Hirohata13, Katsushi Tokunaga14, Yoshinari Takasaki15, Hiroshi Hashimoto16, Takayuki Sumida5, Shigeto Tohma2 and Naoyuki Tsuchiya1, 1Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 2Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, 3Research Center for Hepatitis and Immunology, National Center for Global Health and Medicine, Ichikawa, Japan, 4Environmental Molecular Biology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 5Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 6Niigata Rheumatic Center, Shibata, Japan, 7Department of Internal Medicine, Faculty of Medicine,, University of Tsukuba, Tsukuba, Japan, 8Department of Internal Medicine and Rheumatology, Juntendo University, Tokyo, Japan, 9Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, 10Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, 11Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, 12Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, 13Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, 14Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 15Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, 16Juntendo University School of Medicine, Tokyo, Japan

    Background/Purpose: Interferon regulatory factor (IRF) families are transcription factors involved in type I interferon (IFN) pathway. Recent genetic studies identified association of IRF family genes,…
  • Abstract Number: 1629 • 2013 ACR/ARHP Annual Meeting

    Functional Effect Of NR1H3 (LXRA) Promoter Polymorphisms In Korean Patients With Systemic Lupus Erythematosus

    Ja-Young Jeon1, Hyoun-Ah Kim1, Ju-Yang Jung1 and Chang-Hee Suh2, 1Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, 2Department of Rheumatology, Ajou University Hospital, Suwon, South Korea

    Background/Purpose: Liver X receptor alpha (LXRA, NR1H3) and beta (LXRB, NR1H2) can influence macrophage biology by modulation of lipid metabolism and by effects on innate…
  • Abstract Number: 971 • 2012 ACR/ARHP Annual Meeting

    Association of adam33 Polymorphisms with Systemic Lupus Erythematosus

    Seung Cheol Shim1, Mi Kyoung Lim1, Donghyuk Sheen2 and Hyo Park1, 1Medicine, Eulji University Hospital, Daejeon, South Korea, 2Rheumatology, Eulji University Hospital, Daejeon, South Korea

    Background/Purpose: A Disintegrin and Metalloprotease 33 (ADAM33) is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease…
  • Abstract Number: 846 • 2012 ACR/ARHP Annual Meeting

    Preferential Binding to Elk-1 by SLE-Associated IL10 Risk Allele up-Regulates IL10 Expression

    Daisuke Sakurai1, Jian Zhao1, Yun Deng1, Jennifer A. Kelly2, Kathy Moser Sivils2, Kenneth M. Kaufman3, Elizabeth E. Brown on behalf of PROFILE4, Marta E. Alarcón-Riquelme on behalf of BIOLUPUS and GENLES network5, John B. Harley6, Sang-Cheol Bae7, Chaim O. Jacob8, Timothy J. Vyse9, Timothy B. Niewold10, Patrick M. Gaffney11, Judith A. James2, Robert P. Kimberly12, Gary S. Gilkeson13, Diane L. Kamen14, Carl D. Langefeld15, Deh-Ming Chang16, Yeong Wook Song17, Weiling Chen1, Jennifer M. Grossman1, Bevra H. Hahn18 and Betty P. Tsao1, 1Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, 2Oklahoma Medical Research Foundation, Oklahoma City, OK, 31Center for Autoimmune Genomics and Etiology and Rheumatology Division, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati, Cincinnati, OH, 4University of Alabama at Birmingham, Birmingham, AL, 5Arthritis and Clinical Immunology, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada-Junta de Andalucía (GENYO), Granada, Spain and Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, 7Hanyang University Hospital for Rheumatic Disease, Clinical Research Center for Rheumatoid Arthritis (CRCRA), Seoul, 8Department of Medicine,, Keck School of Medicine, University of Southern California, Los Angeles, CA, 9Divisions of Genetics and Molecular Medicine and Immunology,, King's College London, London, United Kingdom, 10Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, 11Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 12Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 13Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC, 14Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, 15Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 16Headquarter, National Defense Medical Center, Taipei, 17Division of Rheumatology, Department of Internal Medicine, Seoul National University, Seoul, South Korea, 18Rheumatology, UCLA David Geffen School of Medicine, Los Angeles, CA

    Background/Purpose:The established association between IL10 and multiple autoimmune diseases including SLE and elevated levels of IL-10 in SLE patients correlating with disease activity led us to fine-map…
  • Abstract Number: 2273 • 2012 ACR/ARHP Annual Meeting

    Functional Genetic Polymorphisms in Immunoglobulin-Like Transcript 3 Are Associated with Decreased Surface Expression On Dendritic Cells and Increased Serum Cytokines in Lupus Patients

    Mark A. Jensen, Karen C. Patterson, Akaash A. Kumar, Marissa Kumabe, Beverly S. Franek and Timothy B. Niewold, Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL

    Background/Purpose: Hyperactivity of the type I interferon (IFN) pathway is involved in the pathogenesis of systemic lupus erythematosus (SLE). Immunoglobulin like transcript (ILT3) is an…
  • Abstract Number: 2275 • 2012 ACR/ARHP Annual Meeting

    NR1H3 (LXR alpha) Gene Polymorphisms Are Associated with Systemic Lupus Erythematosus in Koreans

    Ja-Young Jeon1, Hyoun-Ah Kim1 and Chang-Hee Suh2, 1Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, 2Department of Rheumatology, Ajou University Hospital, Suwon, South Korea

    Background/Purpose: Liver X receptorsare established sensors of lipid and cholesterol homeostasis. The recent studies have reported that LXRs are involved in regulation of inflammation and…
  • Abstract Number: 2278 • 2012 ACR/ARHP Annual Meeting

    Single Nucleotide Polymorphisms (SNPs) of Integrin-á-M (ITGAM) Are Associated with Susceptibility to Systemic Lupus Erythematosus (SLE) in an Asian Lupus Cohort

    Weng-Giap Law1, Kok Ooi Kong2, Bernard Pui Lam Leung1, Chack-Yung Yu3, Yeong W. Song4, Yun Deng5, Hiok-Hee Chng2, Betty P. Tsao6 and Hwee-Siew Howe7, 1Rheumatology, Allergy & Immunology, Tan Tock Seng Hospital, Singapore, Singapore, 2Department of Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore, Singapore, 3Department of Pediatrics, 7Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and The Ohio State University, Columbus, OH, 4Seoul National University, Seoul, South Korea, 5Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, 6Medicine/Rheumatology, UCLA School of Medicine, Los Angeles, CA, 7Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore, Singapore

    Background/Purpose: SLE is a systemic autoimmune disease where lupus nephritis (LN) is a major cause of morbidity and mortality. Integrin-a-M (ITGAM) is critical for the…
  • Abstract Number: 1613 • 2012 ACR/ARHP Annual Meeting

    The SLE-Associated TLR7 Variant Confers Differential Gene Expression Modulated by Microrna-3148

    Yun Deng1, Jian Zhao1, Daisuke Sakurai1, Kenneth M. Kaufman2, Jeffrey C. Edberg3, Robert P. Kimberly4, Diane L. Kamen5, Gary S. Gilkeson6, Chaim O. Jacob7, Robert H. Scofield8, Carl D. Langefeld9, Jennifer A. Kelly10, Marta E. Alarcün-Riquelme on behalf of BIOLUPUS and GENLES networks11, John B. Harley2, Timothy J. Vyse12, Barry I. Freedman13, Patrick M. Gaffney14, Kathy Moser Sivils10, Judith A. James15, Timothy B. Niewold16, Rita M. Cantor17, Weiling Chen1, Bevra H. Hahn18, Elizabeth E. Brown on behalf of PROFILE4 and Betty P. Tsao19, 1Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, 2Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, 3Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 4Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 5Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, 6Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC, 7Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, 8Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation; Department of Medicine, University of Oklahoma Health Sciences Center; US Department of Veterans Affairs Medical Center, Oklahoma City, OK, 9Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 10Oklahoma Medical Research Foundation, Oklahoma City, OK, 11Centro de Genómica e Investigación Oncológica (GENYO) Pfizer-Universidad de Granada-Junta de Andalucia, Granada, Spain, 12Medical & Molecular Genetics, King's College London, London, United Kingdom, 13Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, 14Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 15Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 16Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, 17Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, 18Rheumatology, UCLA David Geffen School of Medicine, Los Angeles, CA, 19David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA

    Background/Purpose: We established an X-linked TLR7 3’UTR SNP (rs3853839) as a risk locus for SLE in 9,274 Eastern Asians (Pcombined = 6.5×10-10). Risk-allele carriers have…
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